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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 1
2018 2
2019 2
2020 3
2021 7
2022 8
2023 16
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Results by year

Filters applied: . Clear all
Page 1
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: ceylan ac. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Yalcinte… See abstract for full author list ➔ Dundar M, et al. Among authors: ceylan ac. Funct Integr Genomics. 2022 Jun;22(3):291-315. doi: 10.1007/s10142-021-00819-3. Epub 2022 Jan 31. Funct Integr Genomics. 2022. PMID: 35098403
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: ceylan ac. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
ALG11-CDG: novel variant and review of the literature.
Erdal AE, Ceylan AC, Gücüyener K, Öktem RM, Kıreker Köylü O, Kasapkara ÇS. Erdal AE, et al. Among authors: ceylan ac. J Pediatr Endocrinol Metab. 2023 Feb 28;36(4):409-413. doi: 10.1515/jpem-2022-0480. Print 2023 Apr 25. J Pediatr Endocrinol Metab. 2023. PMID: 36843332 Review.
KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.
Aksoy A, Yayıcı Köken Ö, Ceylan AC, Toptaş Dedeoğlu Ö. Aksoy A, et al. Among authors: ceylan ac. Mol Syndromol. 2022 Feb;13(2):159-164. doi: 10.1159/000518974. Epub 2021 Nov 17. Mol Syndromol. 2022. PMID: 35418819 Free PMC article.
First cardiac manifestation of hypotonia-cystinuria syndrome.
Kılıç M, Ceylan AC, Örün UA, Kılıç E. Kılıç M, et al. Among authors: ceylan ac. Metab Brain Dis. 2018 Aug;33(4):1375-1379. doi: 10.1007/s11011-018-0226-2. Epub 2018 Apr 7. Metab Brain Dis. 2018. PMID: 29627929
36 results