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

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Wang H, et al. Among authors: taylan f. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. Brain. 2017. PMID: 29088354 Free PMC article.
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Kvarnung M, et al. Among authors: taylan f. Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019. Front Genet. 2019. PMID: 31608123 Free PMC article.
Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. Among authors: taylan f. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
56 results