Exome

Results: 288



#Item
261DNA sequencing / Exome sequencing / Indel / Sequencing / Genomes Project / Polymerase chain reaction / Massive parallel sequencing / Biology / Molecular biology / Biochemistry

NGS white paper copy.pages

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Source URL: www.ctgt.net

Language: English - Date: 2014-05-20 19:45:30
262T cells / Proteins / Molecular biology / Severe combined immunodeficiency / Ataxia telangiectasia / Exome sequencing / T cell deficiency / T-cell receptor excision circles / T cell / Biology / Health / Medicine

J Clin Immunol[removed]:540–549 DOI[removed]s10875[removed]ORIGINAL RESEARCH Newborn Screening for SCID Identifies Patients with Ataxia

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Source URL: compbio.berkeley.edu

Language: English - Date: 2013-06-10 14:41:50
263Genomics / Gene expression / RNA / Human genome / Full genome sequencing / Exome sequencing / RNA-Seq / Genomes Project / Gene / Biology / Genetics / Molecular biology

PGFI is co-directed by Junhyong Kim, PhD and Jim Eberwine, PhD University of Pennsylvania 302 Lynch Laboratories 433 S. University Ave. Philadelphia, PA 19104

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Source URL: files.genomics.upenn.edu

Language: English - Date: 2013-09-16 14:43:02
264Genomics / Molecular biology / Emerging technologies / DNA sequencing / Full genome sequencing / Exome sequencing / American College of Medical Genetics / Human genome / Medical genetics / Biology / Genetics / Medicine

American College of Medical Genetics and Genomics ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing Robert C. Green, MD, MPH1,2, Jonathan S. Berg, MD, PhD3, Wayne W. Grod

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Source URL: www.acmg.net

Language: English - Date: 2013-03-20 16:40:24
265Genomics / Molecular biology / DNA sequencing / Emerging technologies / Full genome sequencing / American College of Medical Genetics / Exome sequencing / Illumina / Medical genetics / Biology / Genetics / Medicine

© American College of Medical Genetics and Genomics ACMG Policy Statement ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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Source URL: www.acmg.net

Language: English - Date: 2013-07-24 15:38:09
266Molecular biology / Emerging technologies / Genomics / Biotechnology / Medical specialties / Full genome sequencing / Exome sequencing / Medical genetics / Ataxia telangiectasia / Biology / Medicine / Genetics

Commentary © American College of Medical Genetics and Genomics The shifting model in clinical diagnostics: how next-generation sequencing and families are altering

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Source URL: matt.might.net

Language: English - Date: 2014-03-20 13:37:09
267Syndromes / Genetics / Rare diseases / Notch-2 / Protein domains / Notch signaling pathway / Hajdu–Cheney syndrome / EGF-like domain / Exome sequencing / Biology / Health / Medicine

b r i e f c o m m u n i c at i o n s © 2011 Nature America, Inc. All rights reserved. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a

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Source URL: www.hajdu-cheney.com

Language: English - Date: 2012-07-05 15:59:45
268Molecular biology / DNA sequencing / Exome sequencing

Bando congiunto - Final Total score

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Source URL: www.formazione.eu.com

Language: English - Date: 2013-05-27 03:30:39
269Molecular biology / Blindness / Channelopathy / Retinitis pigmentosa / Mutation / Genotyping / Usher syndrome / Exome sequencing / Biology / Genetics / Health

DOC Document

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Source URL: www.asperbio.com

Language: English - Date: 2014-05-21 05:19:57
270Genomics / Emerging technologies / Molecular biology / DNA sequencing / Full genome sequencing / Personalized medicine / Exome sequencing / Navigenics / Genetic testing / Biology / Genetics / Medicine

Review w Translating personalized medicine using new genetic technologies in clinical

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Source URL: cirge.stanford.edu

Language: English - Date: 2014-04-30 19:40:18
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