Nature Genetics

Results: 992



#Item
611Arylsulfatase 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
612Epidemiology / 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
613Genomics / 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
614Medical 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
615Biology / Science / Ontario Genomics Institute / Canada GE3LS / The Centre for Applied Genomics / Genomics / Saguenay /  Quebec / Celera Corporation / Université de Montréal / Biological databases / Genetics / Bioinformatics

Annual report[removed] Nature helping nature

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Source URL: www.genomequebec.com

Language: English - Date: 2012-09-27 08:39:53
616Tumor 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
617Cytochrome P450 / Classical genetics / Pharmacy / Enzymes / CYP2C19 / Clopidogrel / Pharmacogenomics / CYP2D6 / Pharmacogenetics / Biology / Chemistry / Genetics

©American College of Medical Genetics original research article Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:27:58
618Gene / Molecular biology / DNA / Human genetics / Liberal eugenics / Francis Crick / Biology / Genetics / Eugenics

(Reprinted from Nature; Vol. 198, No.

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Source URL: profiles.nlm.nih.gov

Language: English - Date: 1998-03-11 12:33:14
619Pediatrics / Medical genetics / Medical tests / Medical specialties / Fragile X syndrome / Newborn screening / Prenatal diagnosis / Genetic counseling / Screening / Medicine / Health / Syndromes

©American College of Medical Genetics original research article Caregiver opinions about fragile X population screening Donald B. Bailey Jr, PhD1, Ellen Bishop, MS1, Melissa Raspa, PhD1 and Debra Skinner, PhD2

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:27:54
620DNA / Genomics / Biotechnology / Full genome sequencing / William A. Gahl / National Institutes of Health / Exome sequencing / SNP genotyping / Human genome / Biology / Genetics / Molecular biology

©American College of Medical Genetics original research article The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:27:59
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