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A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.
Aydın Hİ, Sönmez FM. Aydın Hİ, et al. Among authors: sonmez fm. Turk J Pediatr. 2019;61(1):92-96. doi: 10.24953/turkjped.2019.01.014. Turk J Pediatr. 2019. PMID: 31559727 Free article.
Aydin HI, Sonmez FM. A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism. ...
Aydin HI, Sonmez FM. A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with …
Tracing immature myelin in acute disseminated encephalomyelitis.
Anlar B, Karli-Oğuz K, Yurtyapan OY, Senbil N, Hergüner O, Altunbaşak S, Sönmez FM, Ozdemir-Geyik P. Anlar B, et al. Among authors: sonmez fm. Turk J Pediatr. 2006 Jul-Sep;48(3):197-201. Turk J Pediatr. 2006. PMID: 17172061
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. Ghosh SG, et al. Among authors: sonmez fm. Eur J Hum Genet. 2021 Jun;29(6):957-964. doi: 10.1038/s41431-021-00832-x. Epub 2021 Apr 6. Eur J Hum Genet. 2021. PMID: 33824466 Free PMC article.
SLC35A2-CDG: novel variants with two ends of the spectrum.
Kasapkara ÇS, Ceylan AC, Özyürek H, Karakaya Molla G, Civelek Ürey B, Kıreker Köylü O, Küçükçongar Yavaş A, Sönmez FM. Kasapkara ÇS, et al. Among authors: sonmez fm. J Pediatr Endocrinol Metab. 2021 Jun 22;34(9):1185-1189. doi: 10.1515/jpem-2021-0292. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34161696
50 results