about
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyObesity genetics in mouse and human: back and forth, and back againProgress and prospects of next-generation sequencing testing for inherited retinal dystrophyPrevalence of neurogenetic disorders in the North of EnglandStroke genetics: prospects for personalized medicineIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressThe genetic basis of music abilityVariation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.The RAB39B p.G192R mutation causes X-linked dominant Parkinson's diseaseNovel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesPurifying selection in deeply conserved human enhancers is more consistent than in coding sequences.Families or Unrelated: The Evolving Debate in Genetic Association Studies.Challenges in whole exome sequencing: an example from hereditary deafness.Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidusThe promise of whole-exome sequencing in medical genetics.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.Genes contributing to pain sensitivity in the normal population: an exome sequencing study.Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.Functional themes from psychiatric genome-wide screens.Biomedical impact of splicing mutations revealed through exome sequencing.The use of next-generation sequencing in movement disordersGenetics of temporal lobe epilepsy: a review.Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.Next generation sequencing for neurological diseases: new hope or new hype?One complex world of mitochondrial parkinsonismComparative genetics: synergizing human and NOD mouse studies for identifying genetic causation of type 1 diabetesThe Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizuresInherited platelet disorders: Insight from platelet genomics using next-generation sequencing.Exome versus transcriptome sequencing in identifying coding region variants.Genomics of acute myeloid leukemia: the next generation.Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.Speech-language pathology insights into genetics and neuroscience: beyond surface behaviour.Next-generation sequencing for lung cancer.Sequencing approaches in cancer treatment.Mechanisms and treatment of ischaemic stroke--insights from genetic associations.Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Exome sequencing: a transformative technology
@ast
Exome sequencing: a transformative technology
@en
Exome sequencing: a transformative technology
@nl
type
label
Exome sequencing: a transformative technology
@ast
Exome sequencing: a transformative technology
@en
Exome sequencing: a transformative technology
@nl
prefLabel
Exome sequencing: a transformative technology
@ast
Exome sequencing: a transformative technology
@en
Exome sequencing: a transformative technology
@nl
P2860
P3181
P1433
P1476
Exome sequencing: a transformative technology
@en
P2093
Andrew B Singleton
P2860
P3181
P356
10.1016/S1474-4422(11)70196-X
P407
P577
2011-10-01T00:00:00Z