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Al Gazali Hirschsprung syndrome

Known as: Al Gazali Donnai Mueller syndrome, Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features, Hirschsprung's disease, hypoplastic nails, and dysmorphic facial features 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (3)

FaciesHirschsprung DiseaseNail Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by… Expand
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2012
2012
Bilginin İmkânı Problemi: Gazali Örneği
Gazali bilginin temellendirilmesi ve kaynaginin neligi hakkinda felsefi sisteminde tutarli bir dusunce ortaya koyar. Onun… Expand
2011
2011
Minimal genotype–phenotype correlation for small deletions within distal 1p36
We report on a 16-year-old girl with mild-to-moderate learning difficulties, behaviorproblems, poor social adaptation, dysmorphic… Expand
Highly Cited
2008
Highly Cited
2008
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis
OBJECTIVES. Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array… Expand
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2008
2008
Screening of patients at risk for 22q11 deletion.
UNLABELLED The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized… Expand
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Review
2006
Review
2006
Magnetic resonance urography in the evaluation of prenatally diagnosed hydronephrosis and renal dysgenesis.
PURPOSE We present our experience with dynamic contrast enhanced magnetic resonance urography for evaluation and treatment in… Expand
2005
2005
336 ZIPRASIDONE EMBRYOPATHY: ARE THE DEFECTS CAUSED BY PHARMACOLOGI-CALLY INDUCED FETAL ARRHYTHMIAS?
Ziprasidone is a new atypical antipsychotic medication used in the treatment of schizophrenia and other severe psychiatric… Expand
Highly Cited
1998
Highly Cited
1998
Inhibition of NF-κB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis
In Drosophila, the Dorsal protein establishes the embryonic dorso–ventral axis during development. Here we show that the… Expand
1990
1990
Trisomy 22 with holoprosencephaly: a clinicopathologic study.
Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of… Expand
1973
1973
Coffin-Siris syndrome. Two new cases.
Two additional cases of a recently delineated pattern of malformation, the Coffin-Siris syndrome, bring the number of reported… Expand
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