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De novo variants in neurodevelopmental disorders with epilepsy

Subjects: Exome/genetics; Male; 0301 basic medicine

  • Source: bioRxiv. Cold Spring Harbor Labs Journals (2017).Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P,

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Subjects: 0301 basic medicine; Male; Candidate gene

  • Source: European Journal of Human Genetics, 25, 11, pp. 1246-1252European Journal of Human Genetics, 25(11), 1246. Nature Publishing GroupEuropean Journal of Human Genetics, 25(11), 1246-1252.

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Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion

Subjects: Adult; Genetic Markers; Male

  • Source: Sheikh, N, Papadakis, M, Wilson, M, Malhotra, A, Adamuz, C, Homfray, T, Monserrat, L, Behr, E R & Sharma, S 2018, ' Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion ',

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Laboratory Genetic Testing in Clinical Practice 2016

Subjects: DNA Copy Number Variations; Article Subject; lcsh:Medicine

  • Source: BioMed Research InternationalBioMed research international, vol. 2017, pp. 5798714BioMed Research International, Vol 2017 (2017)

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Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue:A new paradigm in genetic counseling

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

  • Source: Petersen, A H, Jørgensen, M M A, Nielsen, H R, Dahl Steffensen, K, Waldstrøm, M & Bojesen, A 2016, ' Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue : A

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Genetic anticipation in Swedish Lynch syndrome families

Subjects: Male; 0301 basic medicine; Cancer Research

  • Source: PLoS GeneticsPLoS Genetics, Vol 13, Iss 10, p e1007012 (2017)von Salomé, J, Boonstra, P S, Karimi, M, Silander, G, Stenmark-Askmalm, M, Gebre-Medhin, S, Aravidis, C, Nilbert, M, Lindblom,

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Neugeborenen-Screening auf zystische Fibrose in der Schweiz: Evaluation nach einem Jahr

Subjects: Male; Program evaluation; medicine.medical_specialty

  • Source: Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Juerg (2013). One-year evaluation of a neonatal screening program for cystic fibrosis in

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  • 1-10 ل  13 نتائج ل ""Genetic Testing/methods""