Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease - Wikidata - awgldk - TriplyDB

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

http://www.wikidata.org/entity/Q28301461

about

Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Human genetics and genomics a decade after the release of the draft sequence of the human genome Chapter 7: Pharmacogenomics 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 Multiplex meta-analysis of RNA expression to identify genes with variants associated with immune dysfunction Clinical application of exome sequencing in undiagnosed genetic conditions GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes Ultra-rare Disease and Genomics-Driven Precision Medicine Clinical Genetic Testing in Gastroenterology Genetics and Therapeutics in Pediatric Ulcerative Colitis: the Past, Present and Future High-throughput sequencing for biology and medicine Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism Role of genetics in pediatric inflammatory bowel disease Massively parallel sequencing: the new frontier of hematologic genomics Clinical application of next-generation sequencing for Mendelian diseases Exploring predisposition and treatment response--the promise of genomics Teaching residents genomic pathology: a novel approach for new technology The Human Genome Project, and recent advances in personalized genomics T-regulatory cells in primary immune deficiencies Disease gene identification strategies for exome sequencing Genomics, personalized medicine, and pediatrics The genetics of complex cholestatic disorders Annotating individual human genomes The diagnostic approach to monogenic very early onset inflammatory bowel disease Computational and statistical approaches to analyzing variants identified by exome sequencing Central role of gimap5 in maintaining peripheral tolerance and T cell homeostasis in the gut Genetic risk prediction in complex disease Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.Current issues of pediatric inflammatory bowel disease in Korea.Genetics and disease of ventricular muscle.Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations Genetics of inflammatory bowel disease from multifactorial to monogenic forms The coming age of data-driven medicine: translational bioinformatics' next frontier Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research Ethical considerations of research policy for personal genome analysis: the approach of the Genome Science Project in Japan

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P2860

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

http://www.wikidata.org/entity/Q28301461

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2011 nî lūn-bûn

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P2860

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

IAPs: more than just inhibitors of apoptosis proteins

Exome sequencing identifies the cause of a mendelian disorder

Clinical assessment incorporating a personal genome

Targeted capture and massively parallel sequencing of 12 human exomes

XIAP regulates cytosol-specific innate immunity to Listeria infection

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

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

Inflammatory bowel disease: cause and immunobiology.

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inflammatory bowel diseases