Participant-driven matchmaking in the genomic era.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Participant-driven matchmaking in the genomic era.

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Participant-driven matchmaking in the genomic era.

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Participant-Driven Matchmaking in the Genomic Era

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Participant-driven matchmaking in the genomic era.

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P1476

Participant-driven matchmaking in the genomic era.

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P2093

Katherine F Lambertson

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Matthew Might

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Robert Shelton

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Stephen A Damiani

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P2860

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Clinical application of exome sequencing in undiagnosed genetic conditions

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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

Public preferences regarding informed consent models for participation in population-based genomic research

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

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965-973

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scholarly article

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10.1002/HUMU.22852

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Sharon F. Terry

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2015-08-07T00:00:00Z

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280874076

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26252162

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