Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. - Test2 - elhamkhani - TriplyDB

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

http://www.wikidata.org/entity/Q30156928

about

Exome sequencing identifies ZNF644 mutations in high myopia Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease Modernizing reference genome assemblies Human genetics and genomics a decade after the release of the draft sequence of the human genome Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population Human genome sequencing in health and disease A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care Clinical utility of sequence-based genotype compared with that derivable from genotyping arrays Personalized medicine: hope or hype?A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin Cleft lip and palate: understanding genetic and environmental influences Accurate and comprehensive sequencing of personal genomes Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome Sequencing technologies and genome sequencing The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis Disease gene identification strategies for exome sequencing Annotating individual human genomes Investigative pathology: leading the post-genomic revolution The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Amish revisited: next-generation sequencing studies of psychiatric disorders among the Plain people A public resource facilitating clinical use of genomes Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public Structural variation mutagenesis of the human genome: Impact on disease and evolution.Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease Translational bioinformatics: linking knowledge across biological and clinical realms Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects How bioinformatics influences health informatics: usage of biomolecular sequences, expression profiles and automated microscopic image analyses for clinical needs and public health Whole-genome sequence-based analysis of high-density lipoprotein cholesterol Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data

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P2860

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

http://www.wikidata.org/entity/Q30156928

description

2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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type

label

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

@ast

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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The New England Journal of Medicine

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

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Chengyong Yang

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Chyn Jing

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Curtis Gehman

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Danwei Guo

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David A Wheeler

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David C Y Chen

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David Rio Deiros

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Donna M Muzny

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Huyen Dinh

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James R Lupski

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P2860

The diploid genome sequence of an individual human

The diploid genome sequence of an Asian individual

The complete genome of an individual by massively parallel DNA sequencing

Finishing the euchromatic sequence of the human genome

Identification of the cystic fibrosis gene: chromosome walking and jumping

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Exome sequencing identifies the cause of a mendelian disorder

Accurate whole human genome sequencing using reversible terminator chemistry

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

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1181-1191

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10.1056/NEJMOA0908094

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13

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362

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Claudia Gonzaga-Jauregui

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2010-03-10T00:00:00Z

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20220177

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4036802

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