Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.CNV analysis in 169 patients with bladder exstrophy-epispadias complex.Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.Use of Hormones, Tissue Factors and Bioengineering in the Management of Hypospadias.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
P2860
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P2860
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@ast
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@en
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@nl
type
label
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@ast
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@en
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@nl
prefLabel
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@ast
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@en
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@nl
P2093
P2860
P1433
P1476
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
@en
P2093
Amanda Miller
Ankita Patel
Anne Bandholz
Aysegul Sahin
Barbara Burton
Carolina J Jorgez
Claudia M B Carvalho
Daniel P Flynn
David D Weaver
Deepti Babu
P2860
P304
P356
10.1371/JOURNAL.PONE.0107028
P407
P577
2014-09-09T00:00:00Z