Exome sequencing

Results: 272



#Item
251Syndromes / 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
252Molecular 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
253Molecular 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
254Genomics / 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
255DNA sequencing / Human genetics / Genomics / Exome sequencing / Exome / Genotyping / Human genome / Genetic counseling / Full genome sequencing / Biology / Genetics / Molecular biology

SAMPLE SUBMISSION FORM FOR EXOME SEQUENCING

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Source URL: www.asperbio.com

Language: English - Date: 2013-11-19 09:20:45
256Copy-number variation / Exome sequencing / Center for Applied Genomics / Human genome / Genomes Project / Wellcome Trust Sanger Institute / Full genome sequencing / Gene / Structural variation / Biology / Genetics / Molecular biology

The 12th International Congress of Human Genetics and the American Society of Human Genetics 61st Annual Meeting October 11-15, 2011 Montreal, Canada PLATFORM ABSTRACTS Abstract/

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Source URL: www.ichg2011.org

Language: English - Date: 2011-09-02 09:42:30
257Mood stabilizers / Mood disorders / Bipolar disorder / Lithium / Lithium pharmacology / Treatment of bipolar disorder / Exome sequencing / Mania / Bipolar disorders research / Chemistry / Emotion / Matter

GENETICS OF LITHIUM RESPONSE AND PERSONALIZED TREATMENT OF BIPOLAR DISORDER Martin Alda Department of Psychiatry, Dalhousie University, Halifax, NS, Canada After more than 60 years of use in psychiatry, lithium remains t

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Source URL: www.cinp2013.com

Language: English - Date: 2013-04-07 04:19:53
258Bioinformatics / Biological databases / DNA sequencing / DNA / Exome sequencing / DbSNP / International HapMap Project / Single-nucleotide polymorphism / UniProt / Biology / Molecular biology / Genetics

Tools of the Trade: Data Analysis Karthik Kota, David Jenkins, John Seed, Justin Johnson November[removed]EdgeBio

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Source URL: www.edgebio.com

Language: English - Date: 2012-11-07 10:37:45
259DNA sequencing / Biochemistry / Illumina / RNA-Seq / Full genome sequencing / Exome sequencing / Sequencing / 454 Life Sciences / Biology / Genetics / Molecular biology

System Specification Sheet: Sequencing NextSeq™ 500 Sequencing System A fast, flexible high-throughput desktop sequencer enabling a wide range of applications with the accuracy of Illumina SBS technology. Highlights

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Source URL: res.illumina.com

Language: English - Date: 2014-03-24 12:05:35
260Abnormal psychology / Pervasive developmental disorders / Neurological disorders / Communication disorders / Developmental neuroscience / Autism spectrum / Asperger syndrome / Seaver Autism Center / Exome sequencing / Autism / Health / Psychiatry

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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

Language: English
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