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

Topic mentions per year

Topic mentions per year

1990-2015
01219902015

Papers overview

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2016
2016
Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by… (More)
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Review
2015
Review
2015
Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3… (More)
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2011
2011
We report on a 16-year-old girl with mild-to-moderate learning difficulties, behaviorproblems, poor social adaptation, dysmorphic… (More)
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2008
2008
The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described… (More)
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2008
2008
UNLABELLED The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized… (More)
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Review
2006
Review
2006
PURPOSE We present our experience with dynamic contrast enhanced magnetic resonance urography for evaluation and treatment in… (More)
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Highly Cited
1998
Highly Cited
1998
In Drosophila, the Dorsal protein establishes the embryonic dorso–ventral axis during development. Here we show that the… (More)
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1992
1992
Cerebral ultrasound (US) imaging was performed as a screening procedure in approximately 3,600 neonates and infants over a period… (More)
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1990
1990
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… (More)
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