The National Institutes of Health undiagnosed diseases program (Q26998733)

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English	The National Institutes of Health undiagnosed diseases program	scientific article

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Europe PubMed Central

title

The National Institutes of Health undiagnosed diseases program (English)

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Cynthia J. Tifft

1

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David R. Adams

series ordinal

2

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Crossref

language of work or name

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December 2014

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PubMed

published in

Current Opinion in Pediatrics

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PubMed

volume

26

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PubMed

issue

6

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PubMed

page(s)

626-33

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PubMed

cites work

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

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21 March 2017

NT5E mutations and arterial calcifications

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21 March 2017

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

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21 March 2017

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

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7 April 2017

Glycosylation, hypogammaglobulinemia, and resistance to viral infections

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28 September 2017

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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28 September 2017

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).

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28 September 2017

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

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PubMed Central

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28 September 2017

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

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28 September 2017

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

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PubMed Central

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28 November 2018

The NIH Undiagnosed Diseases Program: lessons learned

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25313974

retrieved

12 December 2020

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Identifiers

DOI

10.1097/MOP.0000000000000155

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PubMed publication ID

25313974

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stated in

PubMed

The National Institutes of Health undiagnosed diseases program (Q26998733)

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The National Institutes of Health undiagnosed diseases program (Q26998733)

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