The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
about
Adult expression of a 3q13.31 microdeletion.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Integrated small copy number variations and epigenome maps of disorders of sex development.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Genetic Syndromes Affecting Kidney Development.Towards precision nephrology: the opportunities and challenges of genomic medicine.A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
P2860
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P2860
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
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name
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@en
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@nl
type
label
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@en
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@nl
prefLabel
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@en
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@nl
P2093
P2860
P1433
P1476
The emerging role of genomics ...... me on chromosome 3q13.31-22.1.
@en
P2093
Ali G Gharavi
Anna Latos-Bielenska
Anna Materna-Kiryluk
Arkadiusz Bieleninik
Katelyn E Burgess
Krzysztof Kiryluk
Simone Sanna-Cherchi
P2860
P2888
P304
P356
10.1007/S00467-013-2625-2
P577
2013-11-30T00:00:00Z