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2021 | 1 |
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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
J Assist Reprod Genet. 2022 Mar;39(3):695-710. doi: 10.1007/s10815-022-02408-0. Epub 2022 Jan 22.
J Assist Reprod Genet. 2022.
PMID: 35066699
Free PMC article.
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
Geckinli B, Turkyilmaz A, Alavanda C, Sager G, Arslan Ates E, Soylemez MA, Arman A.
Geckinli B, et al. Among authors: soylemez ma.
Clin Dysmorphol. 2023 Apr 1;32(2):55-61. doi: 10.1097/MCD.0000000000000454. Epub 2023 Feb 17.
Clin Dysmorphol. 2023.
PMID: 36876345
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Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.
Ateş EA, Turkyilmaz A, Delil K, Alavanda C, Söylemez MA, Geçkinli BB, Ata P, Arman A.
Ateş EA, et al. Among authors: soylemez ma.
Mol Syndromol. 2021 Jun;12(3):179-185. doi: 10.1159/000513611. Epub 2021 Apr 1.
Mol Syndromol. 2021.
PMID: 34177435
Free PMC article.
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