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Academic Journal

Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.

  • Authors : Ameratunga R; Department of Virology and Immunology, Auckland City Hospital, Auckland, 1010, New Zealand. .; Department of Clinical Immunology, Auckland City Hospital, Auckland, 1010, New Zealand. .

Subjects: Genetic Predisposition to Disease* ; Genetic Variation* ; Genetics, Medical*

  • Source: Clinical reviews in allergy & immunology [Clin Rev Allergy Immunol] 2021 Oct; Vol. 61 (2), pp. 226-235. Date of Electronic Publication: 2021 Apr 05.Publisher: Humana Press Country of Publication: United States NLM ID: 9504368 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Subjects: Genetic Variation* ; Genetics, Medical* ; Precision Medicine*

  • Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2020 Apr; Vol. 13 (2), pp. e002480. Date of Electronic Publication: 2020 Mar 11.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The African Genome Variation Project shapes medical genetics in Africa.

  • Authors : Gurdasani D; 1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.; Carstensen T

Subjects: Genetic Variation/Genetic Variation/Genetic Variation/*genetics ; Genetics, Medical/Genetics, Medical/Genetics, Medical/*trends ; Genome, Human/Genome, Human/Genome, Human/*genetics

  • Source: Nature [Nature] 2015 Jan 15; Vol. 517 (7534), pp. 327-32. Date of Electronic Publication: 2014 Dec 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

  • Authors : Matullo G; Dipartimento di Scienze Mediche, Università di Torino, Torino, Italy. ; Di Gaetano C

Subjects: Genetic Variation* ; Genetics, Medical*; Evolution, Molecular

  • Source: Environmental and molecular mutagenesis [Environ Mol Mutagen] 2013 Aug; Vol. 54 (7), pp. 518-32. Date of Electronic Publication: 2013 Aug 06.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8800109 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

DNA variations in human and medical genetics: 25 years of my experience.

  • Authors : Nakamura Y; Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.

Subjects: Genetic Variation* ; Genetics, Medical*; DNA/DNA/DNA/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2009 Jan; Vol. 54 (1), pp. 1-8. Date of Electronic Publication: 2009 Jan 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Genetic variation and disease of human beings. The Danish Society of Medical Genetics].

  • Authors : Tommerup N; Afdeling for medicinsk genetik, Institut for Medicinsk Biokemi og Genetik, Panum Instituttet, Københavns Universitet, DK-2200 København N.50.

Subjects: Genetic Variation* ; Genetics, Medical*/Genetics, Medical*/Genetics, Medical*/trends; Denmark

  • Source: Ugeskrift for laeger [Ugeskr Laeger] 2001 Mar 19; Vol. 163 (12), pp. 1711.Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

  • Authors : McInnes G; Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305, USA.; Sharo AG

Subjects: Genetics, Medical* ; Genomics* ; Machine Learning*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Apr 01; Vol. 108 (4), pp. 535-548.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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Academic Journal

A structural variation reference for medical and population genetics.

Subjects: Genetic Variation*; Disease/Disease/Disease/*genetics ; Genetics, Medical/Genetics, Medical/Genetics, Medical/*standards

  • Source: Nature [Nature] 2020 May; Vol. 581 (7809), pp. 444-451. Date of Electronic Publication: 2020 May 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Returning incidental findings in African genomics research.

  • Authors : Wonkam A; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. .; Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. .

Subjects: Genetic Research* ; Genetic Variation* ; Incidental Findings*

  • Source: Nature genetics [Nat Genet] 2020 Jan; Vol. 52 (1), pp. 17-20.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718

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Academic Journal

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

  • Authors : Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .

Subjects: Awards and Prizes* ; Chromosome Aberrations* ; Genetic Variation* McKusick VA

  • Source: American journal of human genetics [Am J Hum Genet] 2019 Mar 07; Vol. 104 (3), pp. 391-406.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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  • 1-10 of  1,537 results for ""MEDICAL genetics""