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Implications of human genome research: Impact on graduate education in genetic counselingBiesecker, Barbara Bowles ; Vockley, Catherine Walsh ; Conover, ElizabethJournal of genetic counseling, 1993-09, Vol.2 (3), p.213-229 [Revista revisada por pares]New York: Kluwer Academic Publishers‐Human Sciences PressTexto completo disponible |
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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairmentDonato, Luigi ; Alibrandi, Simona ; Scimone, Concetta ; Rinaldi, Carmela ; Dascola, Angela ; Calamuneri, Alessandro ; D'Angelo, Rosalia ; Sidoti, Antonina Koch, Karl-WilhelmPloS one, 2022-12, Vol.17 (12), p.e0278857-e0278857 [Revista revisada por pares]United States: Public Library of ScienceTexto completo disponible |
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Material Type: Artículo
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Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference setsJOSTINS, Luke ; MORLEY, Katherine I ; BARRETT, Jeffrey CEuropean journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.662-666 [Revista revisada por pares]Basingstoke: Nature Publishing GroupTexto completo disponible |
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Material Type: Artículo
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Promoting Children's Health Through Understanding of Genetics and GenomicsKenner, Carole ; Gallo, Agatha M. ; Bryant, Kellie D.Journal of nursing scholarship, 2005-12, Vol.37 (4), p.308-314 [Revista revisada por pares]350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK: Blackwell Science IncTexto completo disponible |
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Material Type: Artículo
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flowSREBNIAK, Malgorzata ; BOTER, Marjan ; OUDESLUIJS, Grétel ; JOOSTEN, Marieke ; GOVAERTS, Lutgarde ; OPSTAL, Diane Van ; GALJAARD, Robert-Jan HEuropean journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1230-1237 [Revista revisada por pares]Basingstoke: Nature Publishing GroupTexto completo disponible |
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Material Type: Artículo
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Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delayXiang, Bixia ; Li, Ao ; Valentin, Dinu ; Nowak, Norma J. ; Zhao, Hongyu ; Li, PeiningAmerican journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1942-1954 [Revista revisada por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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Material Type: Artículo
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Abstracts of the International Anal Neoplasia Society's 2023 Scientific MeetingSexual health, 2023-10, Vol.20 (5), p.xviii-lxiv [Revista revisada por pares]Collingwood: CSIROTexto completo disponible |