American College of Medical Genetics

Results: 405



#Item
221Signal transduction / Genetics / Cell signaling / Fas ligand / Lymphoproliferative disorders / Fas receptor / Mutation / Apoptosis / Haploinsufficiency / Biology / Immune system / Programmed cell death

©American College of Medical Genetics original research article Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain:

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:27:56
222Cancer research / American Society of Human Genetics / American College of Medical Genetics / American Journal of Human Genetics / Federation of American Societies for Experimental Biology / Medical genetics / National Institutes of Health / Medicine / Biology / Health

The American Society of Human Genetics (ASHG)

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Source URL: www.ashg.org

Language: English - Date: 2012-05-10 22:10:47
223Genetics / Diagnosis of fetal aneuploidy / Prenatal diagnosis / SRY / Obstetrics / Y chromosome / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency / Prenatal sex discernment / Pregnancy / Medicine / Pregnancy tests / Biology

©American College of Medical Genetics original research article Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:28:07
224Arylsulfatase E / Genodermatoses / X-linked recessive chondrodysplasia punctata / Cytochrome P450 reductase / Arylsulfatase / Warfarin / Vitamin K / Point mutation / Mutation / Biology / Chemistry / Genetics

Original Research Article © American College of Medical Genetics and Genomics A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations,

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Source URL: www.nature.com

Language: English - Date: 2013-08-27 17:07:42
225Epidemiology / Newborn screening / Pediatrics / American College of Medical Genetics / Medical genetics / National Institutes of Health / Dengue fever / Genomics / Medicine / Health / Cancer research

©American College of Medical Genetics In this Issue research highlights News Briefs

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:28:04
226Genomics / Medical specialties / Cancer research / Clinical research / Medical genetics / Geneticist / Human genome / Myriad Genetics / Public health genomics / 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: 2013-08-27 17:07:39
227Philosophy of biology / Population genetics / Human genetics / Zygosity / Genetic heterogeneity / Genetic variation / Duchenne muscular dystrophy / Dominance / Chromosome 1 / Genetics / Biology / Classical genetics

Am. J. Hum. Genet. 53:6-15, [removed]American Society of Human Genetics Presidential Address: Back to the Future Walter E. Nance Department of Human Genetics, Medical College of Virginia, Richmond

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Source URL: www.ncbi.nlm.nih.gov

Language: English
228Cancer research / American Society of Human Genetics / National Society of Genetic Counselors / American College of Medical Genetics / Association of Canadian Mountain Guides / American Journal of Human Genetics / Medical genetics / Victor A. McKusick / National Institutes of Health / Medicine / Biology / Genetics

Am.J. Hum. Genet. 56:1-10, [removed]ASHG PRESIDENTIAL ADDRESS Who Are We? Where Are We Going? Anticipating the 2 1 st Century Maimon M. Cohen

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Source URL: www.ncbi.nlm.nih.gov

Language: English
229Medical ethics / Medical genetics / Pediatrics / Epidemiology / Newborn screening / Screening / Mental disorder / Genetic counseling / Genetic testing / Medicine / Health / Medical tests

©American College of Medical Genetics original research article Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:28:00
230Tumor markers / Tumor suppressor genes / Oncology / BRCA mutation / Genetic testing / BRCA1 / Ovarian cancer / In the Family / Psycho-oncology / Medicine / Breast cancer / Medical genetics

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships:

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:27:55
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