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The National Institutes of Health undiagnosed diseases program

The National Institutes of Health undiagnosed diseases program

http://www.wikidata.org/entity/Q26998733

about

Initiating an undiagnosed diseases program in the Western Australian public health system.Use of model organism and disease databases to support matchmaking for human disease gene discovery.ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 [Diagnostics in human genetics : Integration of phenotypic and genomic data].The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network.In sickness and in health: context matters when considering potential benefits and risks of genome-wide sequencing.Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

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The National Institutes of Health undiagnosed diseases program

http://www.wikidata.org/entity/Q26998733

description

2014 nî lūn-bûn

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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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The National Institutes of Health undiagnosed diseases program

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Current Opinion in Pediatrics

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The National Institutes of Health undiagnosed diseases program

@en

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Cynthia J. Tifft

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David R. Adams

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P2860

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

NT5E mutations and arterial calcifications

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

A general framework for estimating the relative pathogenicity of human genetic variants

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum

Glycosylation, hypogammaglobulinemia, and resistance to viral infections

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

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10.1097/MOP.0000000000000155

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2014-12-01T00:00:00Z

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