Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
about
The diagnostic approach to monogenic very early onset inflammatory bowel diseaseA clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryIdentification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Applications of high-throughput DNA sequencing to benign hematologyNGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.A Clinician's perspective on clinical exome sequencing.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
P2860
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P2860
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@ast
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@en
Adult siblings with homozygous ...... congenital neutropenia type 4
@nl
type
label
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@ast
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@en
Adult siblings with homozygous ...... congenital neutropenia type 4
@nl
prefLabel
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@ast
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@en
Adult siblings with homozygous ...... congenital neutropenia type 4
@nl
P2093
P2860
P50
P356
P1433
P1476
Adult siblings with homozygous ...... openia type 4 (SCN4) phenotype
@en
P2093
Andrée MacMillan
Brendan Barrett
Bridget A Fernandez
FORGE Canada Consortium
Ford Bursey
Jane S Green
Krista Mahoney
Michael O Woods
Proton Rahman
Sara Fernandez
P2860
P2888
P356
10.1186/1471-2350-13-111
P577
2012-11-21T00:00:00Z
P5875
P6179
1002201559