Assoc. Prof. AYBERK TÜRKYILMAZ | AVESİS

Research Information System

Publications & Works

Publication Network

Published journal articles indexed by SCI, SSCI, and AHCI

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O., Gündoğdu Öğütlü Ö. B., Saritaş S., Guler M. C., Keskin F., Türkyilmaz A.

Journal of neurogenetics , pp.1-10, 2024 (SCI-Expanded)

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Alomarı O., Bebek O., Turkyilmaz A., Sager S. G.

Seizure , vol.124, pp.35-38, 2024 (SCI-Expanded)

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.

Yilmaz M., Bebek O., Colak Y., Türkyılmaz A.

Familial cancer , vol.23, no.4, pp.641-645, 2024 (SCI-Expanded)

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

Dursun F., Turan İ., Bitkin E. Ç., Bayramoğlu E., Çayır A., Erdeve Ş. S., et al.

Clinical endocrinology , vol.101, no.5, pp.475-484, 2024 (SCI-Expanded)

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Turkyilmaz A., Saglam K., Yilmaz M., Cebi A. H.

Clinical genetics , 2024 (SCI-Expanded)

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline.

Kurnaz E., Türkyılmaz A., Yaralı O., Dönmez A. S., Çayır A.

Hormone research in paediatrics , pp.1-16, 2024 (SCI-Expanded)

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

Kardas Yildiz A., Bulbul A., Ozer Bekmez B., TÜRKYILMAZ A., Terali K., Dagdeviren Cakir A., et al.

Molecular Syndromology , vol.15, no.1, pp.77-82, 2024 (SCI-Expanded)

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Yalçınkaya B., Sağlam K., Terali K., Tekin E., Taslak H., Türkyılmaz A.

Molecular Syndromology , vol.15, no.5, pp.380-388, 2024 (SCI-Expanded)

Discovery of a Novel <i>CUL3</i> Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient

Colak Y., YILMAZ M., Kart P. O., Terali K., TÜRKYILMAZ A., CANSU A.

MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded)

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders

TÜRKYILMAZ A., Sager S. G., Caliskan E., Akcay M., DEMİR O., Baytar B., et al.

MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded)

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient

Yılmaz M., Bebek O., Türkyılmaz A.

MOLECULAR SYNDROMOLOGY , vol.15, no.4, pp.317-323, 2024 (SCI-Expanded)

A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes

Türkyılmaz A., Cimbek E. A., Kardeş H., Çebi A. H., Acar Arslan E., Karagüzel G.

CLINICAL DYSMORPHOLOGY , vol.33, no.3, pp.118-120, 2024 (SCI-Expanded)

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals

Demir O., Saglam K., Yilmaz M., Apuhan T., Cebi A. H., Turkyilmaz A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2024 (SCI-Expanded)

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders

Yılmaz M., Kamaşak T., Teralı K., Çebi A. H., Türkyılmaz A.

American Journal of Medical Genetics, Part A , vol.194, no.5, 2024 (SCI-Expanded)

Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder

Sağer G., Yükselmiş U., Güzel O., Türkyılmaz A., Akçay M.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.26, no.2, pp.77-82, 2024 (SCI-Expanded)

Prediction of molecular phenotypes for novel <i>SCN1A</i> variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

Teralı K., Türkyılmaz A., Sağer S. G., Çebi A. H.

CTS-CLINICAL AND TRANSLATIONAL SCIENCE , vol.17, no.1, 2024 (SCI-Expanded) Sustainable Development

Sustainable Development

**Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57*Variant in <i>CEP19</i> Gene**

Cayir A., Turkyilmaz A., Rabenstein H., Guven F., Karagoz Y. S., Vuralli D., et al.

MOLECULAR SYNDROMOLOGY , vol.15, no.2, pp.104-113, 2023 (SCI-Expanded)

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

Türkyılmaz A., Kaplan A. T., Öskan Yalçın S., Sağer S. G., Şimşek Ş.

International ophthalmology , vol.43, no.12, pp.4573-4583, 2023 (SCI-Expanded)

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

YAKICI N., Kreins A. Y., Catak M. C., Babayeva R., ERMAN B., Kenney H., et al.

Clinical immunology (Orlando, Fla.) , vol.255, pp.109757, 2023 (SCI-Expanded)

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood

Sager G., TÜRKYILMAZ A., Gunbey H. P., Tas I., Ozhelvaci F., Akin Y.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , vol.44, pp.51-56, 2023 (SCI-Expanded) Sustainable Development

Sustainable Development

Novel, homozygous <i>RAB3GAP1</i> c.2606+1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome

Geckinli B., TÜRKYILMAZ A., Alavanda C., Sager G., ARSLAN ATEŞ E., SÖYLEMEZ M. A., et al.

CLINICAL DYSMORPHOLOGY , vol.32, no.2, pp.55-61, 2023 (SCI-Expanded) Sustainable Development

Sustainable Development

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep

Sager S. G., TÜRKYILMAZ A., Gunbey H. P., Karatoprak E. Y., Aslan E. S., Akın Y.

Brain and Development , vol.45, no.2, pp.140-145, 2023 (SCI-Expanded)

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism

Türkyılmaz A., Cimbek E. A., Çebi A. H., Acar Arslan E., Karagüzel G.

MOLECULAR SYNDROMOLOGY , vol.14, no.1, pp.35-43, 2023 (SCI-Expanded)

Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS)

Sager G., Takis G., Pinar Z. V., Duzkalir H., TÜRKYILMAZ A., Cag Y., et al.

NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY , vol.53, no.1, 2023 (SCI-Expanded) Sustainable Development

Sustainable Development

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Düzkalir H. G., Genç B., Sağer S. G., TÜRKYILMAZ A., Günbey H. P.

Turkish Journal of Medical Sciences , vol.53, no.6, pp.1840-1851, 2023 (SCI-Expanded)

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Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease

Kaplan A. T., Oskan Yalcin S., Sager S. G., Türkyılmaz A., İnan R.

INTERNATIONAL OPHTHALMOLOGY , vol.43, no.1, pp.333-341, 2023 (SCI-Expanded)

Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability

Sager G., TÜRKYILMAZ A., Hanedar Y. D., Günbey H. P., Akin Y.

Clinical dysmorphology , vol.32, no.1, pp.18-20, 2023 (SCI-Expanded)

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population

TÜRKDOĞAN D., Turkyilmaz A., Sager G., Ozturk G., ÜNVER O., Say M.

INTERNATIONAL JOURNAL OF NEUROSCIENCE , vol.133, no.7, pp.683-700, 2023 (SCI-Expanded) Sustainable Development

Sustainable Development

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

Bolat H., Saǧer S. G., TÜRKYILMAZ A., ÇEBİ A. H., Akln Y., Onay H., et al.

Molecular Syndromology , vol.13, no.5, pp.363-369, 2022 (SCI-Expanded)

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir A., DEMİRBİLEK H., TÜRKYILMAZ A., DEMİRCİOĞLU S., BEREKET A., Darendeliler F., et al.

HORMONE RESEARCH IN PAEDIATRICS , no.SUPPL 2, pp.100, 2022 (SCI-Expanded)

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.

Türkyılmaz A., Sağer S. G., Günbey H. P., Akın Y.

Clinical genetics , vol.102, no.3, pp.218-222, 2022 (SCI-Expanded)

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Kartal Baykan E., Türkyılmaz A.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.14, no.3, pp.350-355, 2022 (SCI-Expanded)

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Karakaya T., Turkyilmaz A., Sager G., Inan R., Yarali O., Cebi A. H., et al.

Neurogenetics , vol.23, no.3, pp.213-221, 2022 (SCI-Expanded)

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS plus Spectrum and Dravet Syndrome

TÜRKYILMAZ A., Tekin E., Yarali O., ÇEBİ A. H.

MOLECULAR SYNDROMOLOGY , vol.13, no.4, pp.270-281, 2022 (SCI-Expanded)

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

Sager G., Turkyilmaz A., Ates E. A., Kutlubay B.

ACTA NEUROLOGICA BELGICA , vol.122, no.2, pp.391-399, 2022 (SCI-Expanded)

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Eltan M., Abali Z. Y., TÜRKYILMAZ A., GÖKCE İ., Abali S., ALAVANDA C., et al.

CALCIFIED TISSUE INTERNATIONAL , vol.110, no.4, pp.441-450, 2022 (SCI-Expanded)

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

TÜRKYILMAZ A., ALAVANDA C., Ates E. A., GEÇKİNLİ B. B., Polat H., GÖKCÜ M., et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS , vol.39, no.3, pp.695-710, 2022 (SCI-Expanded)

Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene

TÜRKYILMAZ A., Sager S. G.

MOLECULAR SYNDROMOLOGY , vol.13, no.1, pp.56-63, 2022 (SCI-Expanded)

A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient

Ates E. A., TÜRKYILMAZ A., Eltan S. B., BARIŞ S., GÜNEY A. İ.

MOLECULAR SYNDROMOLOGY , vol.13, no.1, pp.80-84, 2022 (SCI-Expanded)

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Türkyilmaz A., Sager S. G., Topcu B., Kaplan A. T., Günbey H. P., Akin Y.

Clinical dysmorphology , vol.31, pp.45-49, 2022 (SCI-Expanded)

Secondary findings in 622 Turkish clinical exome sequencing data

Ates E. A., TÜRKYILMAZ A., Yildirim O., ALAVANDA C., Polat H., Demir S., et al.

JOURNAL OF HUMAN GENETICS , vol.66, no.11, pp.1113-1119, 2021 (SCI-Expanded)

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Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

TÜRKYILMAZ A., GEÇKİNLİ B. B., Tekin E., Ates E. A., Yarali O., ÇEBİ A. H., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.24, no.2, pp.15-24, 2021 (SCI-Expanded)

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

Turkyilmaz A., Ozden A.

Clinical dysmorphology , vol.30, pp.197-200, 2021 (SCI-Expanded)

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia

TÜRKYILMAZ A., Kurnaz E., ALAVANDA C., Yarali O., Kartal Baykan E., YAVUZ D., et al.

METABOLIC SYNDROME AND RELATED DISORDERS , vol.19, pp.340-346, 2021 (SCI-Expanded)

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First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly

TÜRKYILMAZ A., Kurnaz E., Cayir A.

MOLECULAR SYNDROMOLOGY , vol.12, no.4, pp.258-262, 2021 (SCI-Expanded) Sustainable Development

Sustainable Development

A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.

Kalaoglu E. E., Turkyilmaz A., Geckinli B. B., Arslan Ates E., Mentes A., Arman A.

Clinical dysmorphology , vol.30, pp.150-153, 2021 (SCI-Expanded)

Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.

Turkyilmaz A., Geckinli B. B., Alavanda C., Arslan Ates E., Buyukbayrak E. E., Eren S. F., et al.

Genetic testing and molecular biomarkers , vol.25, pp.445-451, 2021 (SCI-Expanded)

Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Ates E. A., TÜRKYILMAZ A., DELİL K., ALAVANDA C., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

MOLECULAR SYNDROMOLOGY , vol.12, no.3, pp.179-185, 2021 (SCI-Expanded)

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b

Ozden A., DÖNERAY H., Turkyilmaz A.

ENDOCRINE , vol.72, no.3, pp.852-864, 2021 (SCI-Expanded)

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.

Turkyilmaz A., Cayir A., Yarali O., Kurnaz E., Kartal Baykan E., Arslan Ates E., et al.

Journal of pediatric endocrinology & metabolism : JPEM , vol.34, pp.771-780, 2021 (SCI-Expanded)

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17 alpha-Hydroxylase/17,20-Lyase Deficiency

Kurnaz E., Kartal Baykan E., Turkyilmaz A., Yarali O., Yavas Abali Z., DEMİRCİOĞLU S., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.93, pp.558-566, 2021 (SCI-Expanded)

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant

Turkyilmaz A., GEÇKİNLİ B. B., ALAVANDA C., Ates E. A., ARMAN A.

CLINICAL DYSMORPHOLOGY , vol.30, no.1, pp.10-16, 2021 (SCI-Expanded)

A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature

Turkyilmaz A., Sager G.

MOLECULAR SYNDROMOLOGY , vol.11, pp.315-319, 2020 (SCI-Expanded)

FGF3-Related Phenotypes: A Study of LAMM Syndrome and Otodental Dysplasia Patients with Two Novel Mutations in FGF3 Gene

Turkyilmaz A., GEÇKİNLİ B. B., ALAVANDA C., Zengin G., Ates E. A., ARMAN A.

INTERNATIONAL JOURNAL OF HUMAN GENETICS , vol.20, no.4, pp.179-190, 2020 (SCI-Expanded)

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Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

Tuerkyilmaz A., TÜRKDOĞAN D., Goermez Z., Ekinci G.

CLINICAL DYSMORPHOLOGY , vol.29, no.4, pp.217-223, 2020 (SCI-Expanded)

A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG

DEMİRTAŞ C. Ö., ATA P., Cetin A., Turkyilmaz A., Duman D. G.

TURKISH JOURNAL OF GASTROENTEROLOGY , vol.31, no.7, pp.508-514, 2020 (SCI-Expanded)

THE EXPRESSION LEVELS OF microRNAs ASSOCIATED WITH T AND B CELL DIFFERENTIATION/STIMULATION IN ANKYLOSING SPONDYLITIS

Turkyilmaz A., ATA P., Akbas F., YAĞCI İ.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.23, no.1, pp.25-31, 2020 (SCI-Expanded)

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Sustainable Development

A VERY RARE PARTIAL TRISOMY SYNDROME: DE NOVO DUPLICATION OF 16q12.1q23.3 IN A TURKISH GIRL WITH DEVELOPMENTAL DELAY AND FACIAL DYSMORPHIC FEATURES

Turkyilmaz A., Yarali O.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.23, no.1, pp.103-107, 2020 (SCI-Expanded)

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Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

ELTAN M., Yavas Abali Z., Arslan Ates E., Kirkgoz T., KAYGUSUZ S. B., Turkyilmaz A., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.92, no.4, pp.262-268, 2020 (SCI-Expanded)

A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature

Kurnaz E., Turkyilmaz A., Yarali O., Demir B., Cayir A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.32, no.11, pp.1287-1293, 2019 (SCI-Expanded) Sustainable Development

Sustainable Development

A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN A TURKISH PATIENT

Turkyilmaz A., ÜNVER O., Ekinci G., TÜRKDOĞAN D.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.22, no.2, pp.89-91, 2019 (SCI-Expanded)

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A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

TÜRKDOĞAN D., Turkyilmaz A., Gormez Z., Sager G., Ekinci G.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , vol.66, pp.12-14, 2019 (SCI-Expanded)

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Chanarin-Dorfman syndrome

Kalyon S., Gokden Y., Demirel N., Erden B., Turkyilmaz A.

TURKISH JOURNAL OF GASTROENTEROLOGY , vol.30, no.1, pp.105-108, 2019 (SCI-Expanded)

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Sustainable Development

Articles Published in Other Journals

Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever

Gullu U. U., Balaban I., Kara S. S., Yarali O., Tuerkyilmaz A., Ipek S., et al.

CUREUS JOURNAL OF MEDICAL SCIENCE , no.8, 2023 (ESCI) Sustainable Development

Sustainable Development

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Accogli A., Zaki M. S., Al-Owain M., Otaif M. Y., Jackson A., Argilli E., et al.

BRAIN COMMUNICATIONS , vol.5, no.5, 2023 (ESCI) Sustainable Development

Sustainable Development

A Genetic Approach in the Evaluation of Short Stature

TÜRKYILMAZ A., Donmez A. S., Cayir A.

Eurasian Journal of Medicine , vol.54, 2022 (ESCI)

Genetic Forms of Calciopenic Rickets

Donmez A. S., Türkyılmaz A., Cayir A.

Eurasian Journal of Medicine , vol.54, 2022 (ESCI)

Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

TÜRKYILMAZ A., YARALI O.

Medicine Science | International Medical Journal , vol.10, no.2, pp.293-298, 2021 (Peer-Reviewed Journal)

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Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity

TÜRKYILMAZ A., YARALI O., KURNAZ E., ÇAYIR A.

Medicine Science | International Medical Journal , vol.10, no.2, pp.328-333, 2021 (Peer-Reviewed Journal)

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Sustainable Development

Can Uric Acid Be A Marker For Metabolically Unhealthy Obesity in Children and Adolescents?

KURNAZ E., TÜRKYILMAZ A., ÇAYIR A.

Turkish Journal of Pediatric Disease , vol.15, pp.226-233, 2021 (Peer-Reviewed Journal)

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Sustainable Development

Refereed Congress / Symposium Publications in Proceedings

2018-2022 Yılları Arasında AML Tanısı Almış Hastaların Genetik Test ve Tedavilerinin Değerlendirilmesi: Doğu Karadeniz Bölgesi Sonuçları

Adanur Sağlam K., Kestane M., Türkyılmaz A., Çebi A. H., Erkut N., Balta Ö., et al.

2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Cyprus (Kktc), 4 - 07 May 2023, pp.49

Grin Genleri İlişkili Nörogelişimsel Hastalıklar

Türkyılmaz A., Sağer S. G.

3. Uluslararası Ege Sağlık Alanları Sempozyumu, Muğla, Turkey, 7 - 08 March 2023, pp.36-39

SNP-ARRAY ANALYSIS IN EPILEPSY PATIENTS

Türkyılmaz A., Sağer S. G.

10. INTERNATIONAL GEVHER NESİBE MEDICAL SCIENCES CONFERENCE, Ankara, Turkey, 3 - 05 February 2023, pp.9-10

Adanur Sağlam K., Türkyılmaz A., Çebi A. H., Boz C.

15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.262

Değişken Ekspresivite Gösteren Kif11 Geninde Novel Frameshift Varyant Saptanan Konjenital Lenfödem ve Mikrosefali Ailesi

Adanur Sağlam K., Türkyılmaz A., Çebi A. H., Kader Ş.

15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.263

Adanur Sağlam K., Türkyılmaz A., Cimbek E. A., Bekfilavioğlu S., Yıldız Boyraz A., Çebi A. H., et al.

15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.188

Türkyılmaz A., Baykal Selçuk L., Adanur Sağlam K., Çebi A. H.

15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresİ, Muğla, Turkey, 9 - 13 November 2022, pp.199

Türkyılmaz A., Karabağ Çıtlak H., Gürkan S., Adanur Sağlam K., Çebi A. H., Orhan F., et al.

15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresİ, Muğla, Turkey, 9 - 13 November 2022, pp.200-201

Tüm Ekzom Dizileme Yapılan Bilişsel Gerilik Fenotipi Ile Takipli 72 Olgunun Klinik ve Genetik Bulgularının Değerlendirilmesi

Türkyılmaz A., Sağer S. G.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.64

Boy Kısalığının Nadir Bir Sebebi; Acan Mutasyonu ve Büyüme Hormonu Tedavisi

Karagüzel G., Çebi A. H., Yıldız Boyraz A., Cimbek E. A., Gökcü M., Türkyılmaz A.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.289

Kenny-Caffey Syndrome Type 2: Clinical And Molecular Features In Four Unrelated Patients And Report Of A Novel Fam111A Variant

Kaya M., Eviz E., Koçak Eker H., Tekmenüray Ünal A., Türkyılmaz A., Çepni E., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.272

Konjenital Kalp Hastalığının Nkx2-5 Gen Varyantları Ile Ilişkisi

Geçkinli B. B., Demir Ş., Girgin G., Türkyılmaz A., Akalın F., Arman A.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.298

Evaluation Of The Mutation Spectrum Of 20 Bardet-Biedl Syndrome Cases In Turkish Population

Demir Ş., Arslan Ateş E., Türkyılmaz A., Polat H., Geçkinli B. B., Arman A.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.153

A RARE CASE of IMMUNODEFICIENCY-ICF 1 SYNDROME DIAGNOSED FOLLOWING COVID-19 INFECTION

Karabağ Çıtlak H., Türkyılmaz A., Kendirci N., Kot H., Koç F. S. M., Gayretli Aydın Z. G., et al.

20th Biennial Meeting of The European Society For Immunodeficiencies, Gothenburg, Sweden, 12 - 15 November 2022, pp.681-683 Sustainable Development

Sustainable Development

OTOİMMUN SKLEROZAN KOLANJİT VE HEM OKSİJENAZ EKSİKLİĞİ

KAYA G., BAHADIR A., GÜVEN B., REİS G. P., TÜRKYILMAZ A., AHMETOĞLU A., et al.

57. TPK Kongresi, KIBRIS, Turkey, 21 - 26 May 2022

NADİR BİR İSKELET DİSPLAZİSİ: JEUNE SENDROMU

Bekfilavioğlu S., Cimbek E. A., Yıldız Boyraz A., Türkyılmaz A., Karagüzel G.

ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI -11-, İstanbul, Turkey, 13 - 14 May 2022, pp.156

BOY KISALIĞI İLE GELEN FLOATİNG-HARBOR SENDROMLU BİR OLGU

Yıldız Poyraz A., Türkyılmaz A., Cimbek E. A., Karagüzel G.

ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI -11-, İstanbul, Turkey, 13 - 14 May 2022, pp.115

CİNSİYET GELİŞİM BOZUKLUĞUNUN NADİR BİR NEDENİ: 1q4 DELESYON SENDROMU

Bekfilavioğlu S., Cimbek E. A., Türkyılmaz A., Acar Arslan E., Karagüzel G.

ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI -11-, İstanbul, Turkey, 13 - 14 May 2022, pp.46

Cinsel gelişim bozukluğunun nadir bir nedeni; 1q4 delesyon sendromu

Bekfilavioğlu S., CİMBEK E. A., TÜRKYILMAZ A., ACAR ARSLAN E., KARAGÜZEL G.

Çocuk Endokrinolojisi Olgu Sunumları 11, İstanbul, Turkey, 13 - 14 May 2022

Genişletilmiş Gen Panelleri Moleküler Tanıya Beklenenin Ötesinde Katkı Sunabilir Mi?

TÜRKYILMAZ A., ÇEBİ A. H.

1. Ulusal HematoOnkoGenetik Kongresi, Antalya, Turkey, 25 November 2021, pp.106

Primer Mikrosefali Hasta Kohortunda Genetik Etyolojinin Araştırılması

TÜRKYILMAZ A., SAĞER S. G., ÇEBİ A. H.

XVII. Tıbbi Biyoloji ve Genetik Kongresi, ONLİNE KONGRE, Turkey, 28 October 2021, vol.52, pp.257-258

Sendromik Olmayan Konjenital Katarakt Olgularında Tek Gen Defektlerinin Araştırılması

TÜRKYILMAZ A., KAPLAN A. T., Özkan Yalçın S., SAĞER S. G.

5. Ulusal Çocuk Genetik Kongresi, İzmir, Turkey, 07 October 2021, pp.118

ATOPİK DERMATİT VE İNEK SÜTÜ PROTEİN ALERJİSİ KLİNİĞİ İLE BAŞVURAN STAT 3 EKSİKLİĞİ OLGUSU

Kendirci N., Yakıcı N., Kot H., Türkyılmaz A., Orhan F.

15. Uluslararası Katılımlı ÇOCUK ALERJİ VE ASTIM KONGRESİ, Muğla, Turkey, 30 October - 02 November 2021, pp.124

Herediter Ataksi Ön Tanılı Hasta Kohortunda Genetik Etyolojinin Araştırılması

TÜRKYILMAZ A., SAĞER S. G.

43. Pediatri Günleri ve 22.Pediatri Hemşireliği Günleri, İstanbul, Turkey, 30 May 2021

Serebellar Malformasyonlu Hasta Kohortunda Genetik Etyolojinin Araştırılması

TÜRKYILMAZ A., SAĞER S. G.

CERRAHPAŞA PEDİATRİ GÜNLERİ SEMPTOMDAN TANIYA, İstanbul, Turkey, 15 April 2021

METABOLİK HASTALIK TANISIYLA TAKİPLİ HASTALARIMIZIN KLİNİK, GENETİK VE EEG BULGULARININ DEĞERLENDİRİLMESİ EVALUATION OF CLINICAL, GENETIC AND EEG FINDINGS OF THE PATIENTS FOLLOWED WITH THE DIAGNOSIS OF METABOLIC DISEASES

SAĞER S. G., TÜRKYILMAZ A.

INTERNATIONAL GEVHER NESIBE HEALTH SCIENCES CONFERENCE-VII, Kayseri, Turkey, 16 April 2021

GEFS+ SPEKTRUM Olgularında ARRAY-CGH Değerlendirmesi

SAĞER S. G., TÜRKYILMAZ A.

İSTANBUL MEDENİYET ÜNİVERSİTESİ ÇOCUK MEDENİYETİ ÇEVRİM İÇİ SEMPOZYUM, İstanbul, Turkey, 09 April 2021

Distoni Kliniğiyle Takipli 40 Olgunun Klinik ve Genetik Bulgularının Değerlendirilmesi

SAĞER S. G., TÜRKYILMAZ A.

17. Ulusal Uludağ Pediatri Kış Kongresi, Bursa, Turkey, 13 March 2021

KONJENİTAL HİPOTİROİDİ OLGULARIMIZIN KLİNİK VE GENETİK SONUÇLARININ DEĞERLENDİRİLMESİ: TEK MERKEZ DENEYİMİ

KURNAZ E., TÜRKYILMAZ A., ÇAYIR A.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 12 March 2021

MODY Ön Tanılı 188 Olgunun Klinik ve Genetik Bulgularının Değerlendirilmesi

TÜRKYILMAZ A., ÇAYIR A.

14. ULUSAL TIBBİ GENETİK KONGRESİ, Antalya, Turkey, 20 November 2020

A COHORT OF PATIENTS WITH HYPERTROPHIC AND DILATED CARDIOMYOPATHY

POLAT H., TÜRKYILMAZ A., ALAVANDA C., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 April 2019, pp.86

LAMM SYNDROME; TWO NEW PATIENTS, ONE NOVEL MUTATION AND ONE NEW MECHANISM

ALAVANDA C., TÜRKYILMAZ A., ARSLAN ATEŞ E., GEÇKİNLİ B. B., SÖYLEMEZ M. A., ARMAN A.

13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 April 2019, pp.48

Von Hippel Lindau Patients

ALAVANDA C., ARSLAN ATEŞ E., TÜRKYILMAZ A., POLAT H., GEÇKİNLİ B. B., ATA P., et al.

13 Balkan Congress of Human Genetics, Edirne, Turkey, 17 April 2019, pp.150

Marfan Syndrome: Genotype-Phenotype Correlations

GEÇKİNLİ B. B., ARSLAN ATEŞ E., TÜRKYILMAZ A., ALAVANDA C., YILDIRIM Ö., SÖYLEMEZ M. A., et al.

13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 April 2019, pp.151

A novel intronic ATM gene mutation affecting splicing in a patient with Ataxia-Telangiectasia

ARSLAN ATEŞ E., TÜRKYILMAZ A., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., ARMAN A., et al.

51st European Society of Human Genetics Conference, Milan, Italy, 16 June 2018, vol.27, pp.255

FGF3 gene mutations related to two syndromic Congenital deafness cases: Congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia and Otodental dysplasia

TÜRKYILMAZ A., GEÇKİNLİ B. B., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GÜNEY A. İ., ATA P., et al.

51st European Society of Human Genetics Conference, Milan, Italy, 16 June 2018, vol.27, pp.893

BİR KALITIMSAL KANSER AİLESİNDE ÜÇ FARKLI FENOTİPE YOL AÇAN ÜÇ GENOTİP

ARSLAN ATEŞ E., TÜRKYILMAZ A., ALAVANDA C., YILDIRIM Ö., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.80 Sustainable Development

Sustainable Development

FARKLI GENLER,FARKLI MUTASYONLAR,FENOTİPTE FARKLILIK YARATIYOR MU ?: ALPORT SENDROMU

ATA P., ALAVANDA C., TÜRKYILMAZ A., YILDIZ N., ALPAY H.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 7 - 11 November 2018, vol.30, pp.156-157

REVERSE GENETİK İLE TANI KOYULAN NADİR BİR SPASTİK PARAPLEJİ AİLESİ

ALAVANDA C., ARSLAN ATEŞ E., GEÇKİNLİ B. B., TÜRKYILMAZ A., YILDIRIM Ö., SÖYLEMEZ M. A., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.127

İKİ LAMİNOPATİ OLGUSU: LMNA GENİ MUTASYONLARI İLE İLİŞKİLİ FENOTİPLER

GEÇKİNLİ B. B., TÜRKYILMAZ A., ARSLAN ATEŞ E., YILDIRIM Ö., SÖYLEMEZ M. A., ATA P., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.308

MARMARA ÜNİVERSİTESİ TIP FAKÜLTESİ TIBBİ GENETİK KLİNİĞİNE BAŞVURAN ARİTMİ TANILI HASTA KOHORTU VE GENETİK ANALİZ SONUÇLARI

TÜRKYILMAZ A., ALAVANDA C., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., YILDIRIM Ö., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.165

PAPSS2 GENİNDE NOVEL BİR MUTASYON SAPTANAN NADİR BİR OTOZOMAL RESESİF BRAKİYOLMİ OLGUSU

ARSLAN ATEŞ E., ELTAN M., TÜRKYILMAZ A., ALAVANDA C., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.333

GENETİK KLİNİĞİNE PSÖDOBARTTER SENDROMU BULGULARIYLA BAŞVURAN KİSTİK FİBROZLU İKİ KIZ KARDEŞ

ALAVANDA C., ATA P., TÜRKYILMAZ A., ARSLAN E., YILDIZ N., ALPAY H.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.299

NÖROMOTOR GELİŞME GERİLİĞİ VE DİSMORFİK BULGULARI OLAN HASTALARDA ARRAY-CGH ANALİZİ

ALAVANDA C., ARSLAN ATEŞ E., TÜRKYILMAZ A., GEÇKİNLİ B. B., ATA P., GÜNEY A. İ., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.258

2 KARDEŞTE WARBURG MİKRO SENDROMU' NA NEDEN OLAN RAB3GAP1 GENİ NOVEL İNTRONİK MUTASYONU

GEÇKİNLİ B. B., TÜRKYILMAZ A., ARSLAN ATEŞ E., ALAVANDA C., TAŞLIDERE H., SÖYLEMEZ M. A., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 07 November 2018, vol.30, pp.271

Nöromotor gelişme geriliği ve distonili Xq28 duplikasyon sendromu

GEÇKİNLİ B. B., Şimşek H., DELİL K., TÜRKDOĞAN D., SAĞER S. G., SÖYLEMEZ M. A., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.214

Inversion Y Having Different Phenotypic Expressions at Three Brothers

TÜRKYILMAZ A., ATA P., DELİL K., SOYSAL S., ARSLAN ATEŞ E., GÜNEY A. İ.

50th European Society of Human Genetics Conference, COPENHAGEN, Denmark, 27 May 2017, vol.26, pp.829

Clinical Evaluation of a MDC1A Case Carrying LAMA2 Mutation

SÖYLEMEZ M. A., TÜRKYILMAZ A., ARSLAN ATEŞ E., Şimşek H., KARAKAYA T., DELİL K., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016

Beckwith Wiedemann Sendromlu Olgunun Klinik Bulguları Ve Moleküler Tanısı

KARAKAYA T., SÖYLEMEZ M. A., ARSLAN ATEŞ E., TÜRKYILMAZ A., Şimşek H., DELİL K., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.254

Von Hippel-Lindau Sendromu Ailesindeki Asemptomatik 3 Çocuğun Genetik Test Sonuçlarının Değerlendirilmesi

DELİL K., GEÇKİNLİ B. B., Şimşek H., TÜRKYILMAZ A., ARSLAN ATEŞ E., SÖYLEMEZ M. A., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.183

Nadir Görülen Bir Genetik Sendrom: Meacham Sendromu

DELİL K., TÜRKYILMAZ A., Şimşek H., KARAKAYA T., ARSLAN ATEŞ E., SÖYLEMEZ M. A., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.301

Silver-Russell Sendromlu bir olgu

GEÇKİNLİ B. B., DELİL K., Şimşek H., TÜRKYILMAZ A., ARSLAN ATEŞ E., KARAKAYA T., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.213

Chromosome 17p11.2 deletion in a Turkish girl with Smith-Magenis Syndrome

GEÇKİNLİ B. B., DELİL K., TÜRKYILMAZ A., SÖYLEMEZ M. A., Şimşek H., KARAKAYA T., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016, pp.223

Geç Tanı Almış Wıllıams Sendromlu Üç Olgunun Klinik Değerlendirmesi

ARSLAN ATEŞ E., GEÇKİNLİ B. B., KARAKAYA T., TÜRKYILMAZ A., Şimşek H., SÖYLEMEZ M. A., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 October 2016

RAB3GAP1 Geninde Bilinen Bir Splice-Site Mutasyonunun Fonksiyonel Değerlendirmesi

TÜRKYILMAZ A., SÖYLEMEZ M. A., ARSLAN ATEŞ E., Ergüner B., Şimşek H., KARAKAYA T., et al.

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016

Books & Book Chapters

KALSİYOPENİK RAŞİTİZMİN GENETİK FORMLARI

ÇAYIR A., TÜRKYILMAZ A., KURNAZ E.

in: Çocuk Endokrinolojisi ve Diyabet, DARENDELİLER FEYZA, AYCAN ZEHRA, KARA CENGİZ, ÖZEN SAMİM, EREN ERDAL, Editor, İSTANBUL TIP KİTAPEVLERİ, İstanbul, pp.1862-1874, 2021 Sustainable Development

Sustainable Development

Metrics

Publication

129

Citation (WoS)

130

H-Index (WoS)

5

Citation (Scopus)

142

H-Index (Scopus)

6

Citation (Scholar)

58

H-Index (Scholar)

6

Project

3

Thesis Advisory

1

Open Access

13

UN Sustainable Development Goals