Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

Item
http://www.wikidata.org/entity/Q34737799
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsHistogenesis of retinal dysplasia in trisomy 13Corpus callosal abnormalities in dogs.Hirschsprung disease and other enteric dysganglionoses.Syndromic XLMR genes (MRXS): update 2000.Hirschsprung disease, associated syndromes, and genetics: a review.An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat TextureHirschsprung's disease associated with alopecia universalis congenita: a case report.Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review.Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease.Histopathological and immunohistochemical study of the enteric innervations among various types of aganglionoses including isolated and syndromic Hirschsprung disease.
P2860

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

Item
http://www.wikidata.org/entity/Q34737799
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@ast
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@en
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@nl
type
label
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@ast
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@en
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@nl
prefLabel
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@ast
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@en
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Brain anomalies, retardation o ...... poplasia (BRESEK/BRESHECK): ne
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19970211)68:4<386::AID-AJMG2>3.0.CO;2-K
P433
P478
P577
P698