Nature Genetics

Results: 992



#Item
591Genomics / Medical tests / American College of Medical Genetics / Bioinformatics / Molecular biology / Emerging technologies / Full genome sequencing / Medical genetics / Association of Canadian Mountain Guides / Medicine / Biology / Genetics

ACMG Practice Guidelines © American College of Medical Genetics and Genomics Incidental findings in clinical genomics: a clarification American College of Medical Genetics and Genomics1

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Source URL: www.nature.com

Language: English - Date: 2013-08-27 17:07:46
592Mental retardation / Phenylketonuria / Hyperphenylalanemia / Newborn screening / Medical genetics / Tetrahydrobiopterin / Phenylalanine / PKU / BioMarin Pharmaceutical / Medicine / Health / Pediatrics

Review © American College of Medical Genetics and Genomics Open

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Source URL: www.nature.com

Language: English - Date: 2013-08-27 17:07:39
593Medical specialties / Medical genetics / Nature Publishing Group / Nature / American College of Medical Genetics / Newborn screening / Genetic testing / Paul Billings / Medicine / Publishing / Health

PRESS RELEASE FROM GENETICS IN MEDICINE (http://www.nature.com/gim/) For a paper that will be published online on 21 February 2013 This press release is copyrighted to the journal Genetics in Medicine Its use is granted

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Source URL: www.nature.com

Language: English - Date: 2013-03-04 15:40:39
594Microbiology / Gene delivery / Mutation / Transformation / DNA / Cell / Gene / Nucleic acid / Mutagen / Biology / Genetics / Molecular biology

chapter 3 THE CHEMICAL NATURE OF GENETIC MATERIAL

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Source URL: profiles.nlm.nih.gov

Language: English - Date: 2000-10-20 17:32:38
595Integral membrane proteins / Channelopathy / Generalized epilepsy with febrile seizures plus / Genetics / Nav1.1 / MSX1 / Sodium channel / Mutation / Cleft lip and palate / Biology / Ion channels / Electrophysiology

© 2000 Nature America Inc. • http://genetics.nature.com brief communications © 2000 Nature America Inc. • http://genetics.nature.com

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Source URL: www.hg.med.umich.edu

Language: English - Date: 2009-10-27 15:32:28
596Lipid storage disorders / Rare diseases / Hepatology / Organ failure / Niemann–Pick disease / Robert J. Desnick / Liver transplantation / Sphingomyelin phosphodiesterase 1 / Lysosomal storage disease / Medicine / Health / Anatomy

Original Research Article © American College of Medical Genetics and Genomics Morbidity and mortality in type B Niemann–Pick disease Margaret M. McGovern, MD, PhD1, Natalie Lippa, MS, CGC2, Emilia Bagiella, PhD2,

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Source URL: www.nature.com

Language: English - Date: 2013-08-27 17:07:44
597Epidemiology / 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 15:28:05
598Medical ethics / Patient safety / Health informatics / Nursing ethics / Medical record / Health information technology / Medical genetics / Standard of care / Physician self-referral / Medicine / Health / Medical informatics

Original Research Article © American College of Medical Genetics and Genomics Managing incidental genomic findings: legal obligations of clinicians

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Source URL: www.nature.com

Language: English - Date: 2013-08-27 17:07:46
599Mutation / Hereditary spastic paraplegia / Alu element / BRCA1 / SPG11 / Copy-number variation / RNA splicing / Retinal Degeneration / Gene duplication / Biology / Genetics / Molecular biology

©American College of Medical Genetics original research article Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

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Source URL: www.nature.com

Language: English - Date: 2012-04-04 15:28:06
600Gene expression / Viruses / Protein structure / Orthoreovirus / Double-stranded RNA viruses / Reoviridae / RNA-dependent RNA polymerase / Ribosome / Cryo-electron microscopy / Biology / Genetics / RNA

© 2003 Nature Publishing Group http://www.nature.com/naturestructuralbiology ARTICLES Reovirus polymerase λ3 localized by cryo-electron microscopy of virions at a resolution of 7.6 Å

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Source URL: cryoem.ucsd.edu

Language: English - Date: 2005-03-02 19:30:29
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