Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan, ELİF; Oncel, Ibrahim; Ceylan, Ahmet; Topcu, Meral; Topaloglu, Haluk

doi:10.1016/j.braindev.2019.08.004

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan E., Oncel I., Ceylan A. C., Topcu M., Topaloglu H.

BRAIN & DEVELOPMENT, cilt.42, sa.1, ss.6-18, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 42 Sayı: 1
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.braindev.2019.08.004
Dergi Adı: BRAIN & DEVELOPMENT
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
Sayfa Sayıları: ss.6-18
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Karadeniz Teknik Üniversitesi Adresli: Hayır

Özet

Background: The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.