Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

Item
http://www.wikidata.org/entity/Q49398765
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Bagging Nearest-Neighbor Prediction independence Test: an efficient method for nonlinear dependence of two continuous variables.Evolutionary Nephrology.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Genomic medicine for kidney disease.Genetic basis of human congenital anomalies of the kidney and urinary tract.Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Towards precision nephrology: the opportunities and challenges of genomic medicine.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
P2860

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

Item
http://www.wikidata.org/entity/Q49398765
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@en
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@nl
type
label
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@en
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@nl
prefLabel
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@en
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Exome Sequencing Discerns Synd ...... the Kidneys and Urinary Tract.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932