Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
about
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion.A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.Systems-wide Studies Uncover Commander, a Multiprotein Complex Essential to Human Development.Immunodeficiency as a component of recognizable syndromes.Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.Protein maps chart the causes of disease.Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.Dandy-walker malformation: prenatal diagnosis and outcome.Proximal trisomy 1q in a girl with developmental delay and minor anomalies.A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome.Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvementPeriventricular heterotopia with white matter abnormalities associated with 6p25 deletion
P2860
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P2860
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
description
1987 nî lūn-bûn
@nan
1987 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@ast
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@en
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@nl
type
label
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@ast
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@en
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@nl
prefLabel
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@ast
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@en
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@nl
P2093
P356
P1476
Dandy-Walker(like) malformatio ...... in 2 sisters: a new syndrome?
@en
P2093
P2860
P304
P356
10.1002/AJMG.1320260227
P407
P577
1987-02-01T00:00:00Z