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The National Institutes of Health undiagnosed diseases program
scientific article
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Statements
instance of
scholarly article
1 reference
stated in
PubMed
review article
1 reference
stated in
Europe PubMed Central
title
The National Institutes of Health undiagnosed diseases program
(English)
1 reference
stated in
PubMed
author name string
Cynthia J. Tifft
series ordinal
1
1 reference
stated in
Crossref
David R. Adams
series ordinal
2
1 reference
stated in
Crossref
language of work or name
English
1 reference
stated in
PubMed
publication date
December 2014
1 reference
stated in
PubMed
published in
Current Opinion in Pediatrics
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stated in
PubMed
volume
26
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stated in
PubMed
issue
6
1 reference
stated in
PubMed
page(s)
626-33
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stated in
PubMed
cites work
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
21 March 2017
NT5E mutations and arterial calcifications
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
21 March 2017
A general framework for estimating the relative pathogenicity of human genetic variants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
7 April 2017
Glycosylation, hypogammaglobulinemia, and resistance to viral infections
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
28 September 2017
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
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).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
28 September 2017
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
28 September 2017
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
28 September 2017
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4302336
retrieved
28 November 2018
The NIH Undiagnosed Diseases Program: lessons learned
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25313974
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1097/MOP.0000000000000155
1 reference
stated in
PubMed
PMC publication ID
4302336
1 reference
stated in
PubMed
PubMed publication ID
25313974
1 reference
stated in
PubMed
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