Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
about
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.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.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Genetic Renal Diseases: The Emerging Role of Zebrafish ModelsProteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins
P2860
Q47123721-04062B6F-57A9-40A1-9137-6FDAEB282634Q47200436-075FB16D-C21B-4673-B05F-1A8F0C8E559EQ47224735-485458BE-B995-4A4C-B4EF-FBA49A773E76Q47444849-00F7A716-3BB2-4BA1-8FB5-2AD46539D8C6Q50100394-3FA40003-A645-4245-8077-A09B0C72AEC5Q56992139-6B456F34-16C0-498F-B8B6-384712DDAE32Q58803849-64CF0861-8E02-48F4-9BB2-5614E28DF8A2
P2860
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh-hant
name
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@en
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@nl
type
label
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@en
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@nl
prefLabel
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@en
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@nl
P2093
P2860
P50
P356
P1476
Targeted Exome Sequencing Iden ...... the Kidney and Urinary Tract.
@en
P2093
Camille Humbert
Charline Henry
Christine Bole-Feysot
Christine Pietrement
Cécile Fourrage
Dominique Gaillard
Elise Schaefer
Frédéric Tores
Jelena Martinovic
Joëlle Roume
P2860
P304
P356
10.1681/ASN.2017010043
P577
2017-05-31T00:00:00Z