American College of Medical Genetics and Genomics

Results: 162



#Item
31Bioinformatics / Molecular biology / DNA / Inbreeding / Coefficient of relationship / Cousin marriage / Loss of heterozygosity / Consanguinity / DNA microarray / Biology / Genetics / Kinship and descent

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease

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Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:11:56
32Genomics / Pharmacology / Polymorphism / Pharmacy / Pharmacogenomics / Genome-wide association study / Personalized medicine / Genotype / Phenotype / Biology / Genetics / Medicine

©American College of Medical Genetics and Genomics SYSTEMATIC REVIEW Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing

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Source URL: www.nature.com

Language: English - Date: 2013-05-06 11:00:35
33Genomics / Molecular biology / Bioinformatics / Medical genetics / American College of Medical Genetics / Full genome sequencing / Exome sequencing / Exome / Association of Canadian Mountain Guides / Biology / Genetics / Medicine

ACMG Policy Statement © American College of Medical Genetics and Genomics Points to consider for informed consent for genome/exome sequencing

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:39
34Molecular biology / Ciliopathy / Genomics / DNA / Bardet–Biedl syndrome / Human genome / Exome sequencing / Genetic disorder / Medical genetics / Biology / Genetics / Medicine

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open

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Source URL: www.nature.com

Language: English - Date: 2013-05-06 10:59:49
35Genomics / DNA sequencing / Bioinformatics / American College of Medical Genetics / Full genome sequencing / Exome sequencing / Exome / Incidentalome / Association of Canadian Mountain Guides / Biology / Genetics / Molecular biology

Letters to the Editor ACMG recommendations on incidental findings are flawed scientifically and ethically To the Editor: The “ACMG Recommendations for Reporting

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:40
36Genomics / Bioinformatics / Health sciences / Return of results / Human genome / Full genome sequencing / National Institutes of Health / Cancer research / Genetic counseling / Biology / Genetics / Medicine

Original Research Article © American College of Medical Genetics and Genomics Open

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Source URL: www.nature.com

Language: English - Date: 2013-07-03 11:01:52
37Genomics / Medical genetics / Human genetics / Medical specialties / Genetic counseling / Human genome / Incidentalome / Genetic testing / American College of Medical Genetics / Medicine / Biology / Genetics

research highlights ©American College of Medical Genetics and Genomics In this Issue

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Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:11:01
38Genomics / Bioinformatics / Emerging technologies / Molecular biology / American College of Medical Genetics / Full genome sequencing / Incidentalome / Association of Canadian Mountain Guides / Exome / Biology / Medicine / Genetics

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:05:54
39Syndromes / Chromosomal abnormalities / Down syndrome / Chromosomes / Trisomy / Aneuploidy / Congenital heart defect / Karyotype / Turner syndrome / Genetics / Cytogenetics / Biology

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Survival among people with Down syndrome: a nationwide population-based study in Denmark

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Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:11:49
40Oncology / Neurological disorders / Neurofibroma / Magnetic resonance imaging / Neurofibromatosis type II / Medicine / Health / Brain tumor

© American College of Medical Genetics and Genomics Original Research Article Growth behavior of plexiform neurofibromas after surgery Rosa Nguyen, MD1,2, Chadi Ibrahim, MD, BSc3, Reinhard E. Friedrich, MD4, Manfred We

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:10
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