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Implications of human genome research: Impact on graduate education in genetic counseling
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Implications of human genome research: Impact on graduate education in genetic counseling

Biesecker, Barbara Bowles ; Vockley, Catherine Walsh ; Conover, Elizabeth

Journal of genetic counseling, 1993-09, Vol.2 (3), p.213-229 [Revista revisada por pares]

New York: Kluwer Academic Publishers‐Human Sciences Press

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2
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
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The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

Donato, Luigi ; Alibrandi, Simona ; Scimone, Concetta ; Rinaldi, Carmela ; Dascola, Angela ; Calamuneri, Alessandro ; D'Angelo, Rosalia ; Sidoti, Antonina Koch, Karl-Wilhelm

PloS one, 2022-12, Vol.17 (12), p.e0278857-e0278857 [Revista revisada por pares]

United States: Public Library of Science

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3
Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets
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Artículo
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Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

JOSTINS, Luke ; MORLEY, Katherine I ; BARRETT, Jeffrey C

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.662-666 [Revista revisada por pares]

Basingstoke: Nature Publishing Group

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4
Promoting Children's Health Through Understanding of Genetics and Genomics
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Artículo
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Promoting Children's Health Through Understanding of Genetics and Genomics

Kenner, 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 Inc

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5
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
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Artículo
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

SREBNIAK, Malgorzata ; BOTER, Marjan ; OUDESLUIJS, Grétel ; JOOSTEN, Marieke ; GOVAERTS, Lutgarde ; OPSTAL, Diane Van ; GALJAARD, Robert-Jan H

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1230-1237 [Revista revisada por pares]

Basingstoke: Nature Publishing Group

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6
Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
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Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

Xiang, Bixia ; Li, Ao ; Valentin, Dinu ; Nowak, Norma J. ; Zhao, Hongyu ; Li, Peining

American 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 Company

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7
Abstracts of the International Anal Neoplasia Society's 2023 Scientific Meeting
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Artículo
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Abstracts of the International Anal Neoplasia Society's 2023 Scientific Meeting

Sexual health, 2023-10, Vol.20 (5), p.xviii-lxiv [Revista revisada por pares]

Collingwood: CSIRO

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