Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
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Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocksGenome-wide mutational spectra analysis reveals significant cancer-specific heterogeneityActualizing the Benefits of Genomic Discovery in Pediatric Nephrology.A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.Germinal mosaicism in a family with BO syndrome.Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan
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Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genome-wide copy number variat ...... mplicates new candidate genes.
@en
Genome-wide copy number variat ...... mplicates new candidate genes.
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type
label
Genome-wide copy number variat ...... mplicates new candidate genes.
@en
Genome-wide copy number variat ...... mplicates new candidate genes.
@nl
prefLabel
Genome-wide copy number variat ...... mplicates new candidate genes.
@en
Genome-wide copy number variat ...... mplicates new candidate genes.
@nl
P2093
P2860
P1433
P1476
Genome-wide copy number variat ...... mplicates new candidate genes.
@en
P2093
Benjamin W Darbro
Bryan Cobb
Carla Nishimura
Fatemeh Alasti
J Robert Manak
Jason Clarke
Patrick D Brophy
Richard J Smith
P2860
P2888
P304
P356
10.1007/S00439-013-1338-8
P577
2013-07-13T00:00:00Z