Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Susgun, SEDA; Kesim, Yesim; Khalilov, Dovlat; Sirin, Nermin; Gezegen, Hasim; Salman, Baris; Yucesan, Emrah; Gokcay, Gulden; Korbeyli, Huseyin; Balci, Mehmet; Iseri, Sibel; Baykan, Betul; Bebek, Nerses

doi:10.1007/s10072-023-06699-8

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., ...Daha Fazla

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, cilt.44, sa.7, ss.2527-2540, 2023 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 44 Sayı: 7
Basım Tarihi: 2023
Doi Numarası: 10.1007/s10072-023-06699-8
Dergi Adı: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, Index Islamicus, MEDLINE, Psycinfo
Sayfa Sayıları: ss.2527-2540
Anahtar Kelimeler: Linkage analysis, Reanalysis of WES, FOLR1, Cerebral folate deficiency, Folinic acid treatment
Bezmiâlem Vakıf Üniversitesi Adresli: Evet