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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254.
Brain. 2023.
PMID: 37516995
Free PMC article.
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.
Anlaş Ö, Ölmez A, Karaman B, Düzcan F, Yüksel S, Tümkaya F, Bağcı G, Semerci Gündüz CN.
Anlaş Ö, et al. Among authors: semerci gunduz cn.
Mol Syndromol. 2023 Jun;14(3):246-253. doi: 10.1159/000527160. Epub 2023 Feb 1.
Mol Syndromol. 2023.
PMID: 37323193
Free PMC article.
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Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Güleç Ceylan G, Arslan Satılmış SB, Çavdarlı B, Semerci Gündüz CN.
Güleç Ceylan G, et al. Among authors: semerci gunduz cn.
Tohoku J Exp Med. 2022 Nov 22;258(4):319-325. doi: 10.1620/tjem.2022.J087. Epub 2022 Oct 27.
Tohoku J Exp Med. 2022.
PMID: 36288950
Free article.
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A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.
Albuz B, Çetin GO, Özhan B, Sarikepe B, Anlaş Ö, Öztürk M, Zeybek S, Sabir N, Bağci G, Semerci Gündüz CN.
Albuz B, et al. Among authors: semerci gunduz cn.
Clin Dysmorphol. 2020 Jan;29(1):61-64. doi: 10.1097/MCD.0000000000000295.
Clin Dysmorphol. 2020.
PMID: 31567425
No abstract available.
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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R.
Fassio A, et al. Among authors: semerci gunduz cn.
Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.
Brain. 2018.
PMID: 29668857
Free PMC article.
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