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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17.
Clin Genet. 2021.
PMID: 33495992
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM.
Alharby E, et al. Among authors: zaytuni d.
Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3.
Genet Med. 2020.
PMID: 32741967
Free article.
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Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.
Almaramhy HH, Abdul Samad F, Al-Harbi G, Zaytuni D, Imam SN, Masoodi T, Shamsi MB.
Almaramhy HH, et al. Among authors: zaytuni d.
Front Genet. 2023 Jun 13;14:1106933. doi: 10.3389/fgene.2023.1106933. eCollection 2023.
Front Genet. 2023.
PMID: 37384334
Free PMC article.
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