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Page 1
The phenotypic spectrum of PTCD3 deficiency.
Lace B, Faqeih E, Kaya N, Krumina Z, Mayr JA, Micule I, Wright NT, Achleitner MT, AlQudairy H, Pajusalu S, Stavusis J, Zayakin P, Inashkina I. Lace B, et al. Among authors: kaya n. JIMD Rep. 2024 May 27;65(5):297-304. doi: 10.1002/jmd2.12424. eCollection 2024 Sep. JIMD Rep. 2024. PMID: 39544688 Free PMC article.
A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N. Al-Hassnan Z, et al. Among authors: kaya n. Front Psychiatry. 2024 Oct 18;15:1428175. doi: 10.3389/fpsyt.2024.1428175. eCollection 2024. Front Psychiatry. 2024. PMID: 39544370 Free PMC article.
YIF1B-Related Neurodevelopmental Disorder.
Medico-Salsench E, Kaya N, Barakat TS. Medico-Salsench E, et al. Among authors: kaya n. 2024 Sep 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Sep 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39265055 Free Books & Documents. Review.
265 results