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Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature.
Mol Syndromol. 2023 Apr;14(2):164-170. doi: 10.1159/000528201. Epub 2023 Jan 11.
Mol Syndromol. 2023.
PMID: 37064339
Free PMC article.
Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.
İpek R, Çavdartepe BE, Kor D, Okuyaz Ç.
İpek R, et al. Among authors: cavdartepe be.
Metab Brain Dis. 2022 Dec;37(8):3027-3032. doi: 10.1007/s11011-022-01085-3. Epub 2022 Oct 29.
Metab Brain Dis. 2022.
PMID: 36308585
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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey.
Öztürk Ö, Çavdartepe BE, Bağış H.
Öztürk Ö, et al. Among authors: cavdartepe be.
Mol Syndromol. 2022 May;13(3):246-253. doi: 10.1159/000519640. Epub 2022 Feb 4.
Mol Syndromol. 2022.
PMID: 35707597
Free PMC article.
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