Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

444 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: unal o. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Değerliyurt A, et al. Among authors: unal o, unal s. Turk J Pediatr. 2019;61(2):261-266. doi: 10.24953/turkjped.2019.02.016. Turk J Pediatr. 2019. PMID: 31951338 Free article.
Degerliyurt A, Gunduz M, Ceylaner S, Unal O, Unal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. ...
Degerliyurt A, Gunduz M, Ceylaner S, Unal O, Unal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. …
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.
Gündüz M, Ünal Ö, Küçükçongar-Yavaş A, Kasapkara Ç. Gündüz M, et al. Among authors: unal o. Turk J Pediatr. 2019;61(2):289-291. doi: 10.24953/turkjped.2019.02.023. Turk J Pediatr. 2019. PMID: 31951345 Free article.
Gunduz M, Unal O, Kucukcongar-Yavas A, Kasapkara C. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes. ...
Gunduz M, Unal O, Kucukcongar-Yavas A, Kasapkara C. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevate …
444 results