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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22.
J Med Genet. 2022.
PMID: 36137615
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.
Naud ME, Tosca L, Martinovic J, Saada J, Métay C, Drévillon L, Benoit V, Brisset S, Tachdjian G.
Naud ME, et al.
Case Rep Genet. 2017;2017:7803136. doi: 10.1155/2017/7803136. Epub 2017 Mar 29.
Case Rep Genet. 2017.
PMID: 28465847
Free PMC article.
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The Astrobiology Primer v2.0.
Domagal-Goldman SD, Wright KE, Adamala K, Arina de la Rubia L, Bond J, Dartnell LR, Goldman AD, Lynch K, Naud ME, Paulino-Lima IG, Singer K, Walther-Antonio M, Abrevaya XC, Anderson R, Arney G, Atri D, Azúa-Bustos A, Bowman JS, Brazelton WJ, Brennecka GA, Carns R, Chopra A, Colangelo-Lillis J, Crockett CJ, DeMarines J, Frank EA, Frantz C, de la Fuente E, Galante D, Glass J, Gleeson D, Glein CR, Goldblatt C, Horak R, Horodyskyj L, Kaçar B, Kereszturi A, Knowles E, Mayeur P, McGlynn S, Miguel Y, Montgomery M, Neish C, Noack L, Rugheimer S, Stüeken EE, Tamez-Hidalgo P, Imari Walker S, Wong T.
Domagal-Goldman SD, et al. Among authors: naud me.
Astrobiology. 2016 Aug;16(8):561-653. doi: 10.1089/ast.2015.1460.
Astrobiology. 2016.
PMID: 27532777
Free PMC article.
Review.
No abstract available.
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