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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
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National Institutes of Health
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Related topics
Related topics
3 relations
Broader (3)
Facies
Hirschsprung Disease
Nail 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.
Zhiyong Chen
,
T. Migeon
,
+5 authors
E. Plaisier
Journal of the American Society of Nephrology
2016
Corpus ID: 16440584
Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by…
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2012
2012
Bilginin İmkânı Problemi: Gazali Örneği
Ferhat Ağırman
,
Ahmed Türkmetin
2012
Corpus ID: 188923141
Gazali bilginin temellendirilmesi ve kaynaginin neligi hakkinda felsefi sisteminde tutarli bir dusunce ortaya koyar. Onun…
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2011
2011
Minimal genotype–phenotype correlation for small deletions within distal 1p36
A. Buck
,
C. du Souich
,
C. Boerkoel
American Journal of Medical Genetics. Part A
2011
Corpus ID: 27643019
We report on a 16-year-old girl with mild-to-moderate learning difficulties, behaviorproblems, poor social adaptation, dysmorphic…
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Highly Cited
2008
Highly Cited
2008
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis
X‐Y. Lu
,
M. T. Phung
,
+12 authors
A. Beaudet
Pediatrics
2008
Corpus ID: 24111237
OBJECTIVES. Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array…
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2008
2008
Screening of patients at risk for 22q11 deletion.
I. Barišić
,
Leona Morožin Pohovski
,
I. Petković
,
Željko Cvetko
,
G. Stipančić
,
M. Bagatin
Collegium Antropologicum
2008
Corpus ID: 10842056
UNLABELLED The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized…
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Review
2006
Review
2006
Magnetic resonance urography in the evaluation of prenatally diagnosed hydronephrosis and renal dysgenesis.
L. McMann
,
A. Kirsch
,
+5 authors
J. Grattan-Smith
Journal of Urology
2006
Corpus ID: 36228419
2005
2005
336 ZIPRASIDONE EMBRYOPATHY: ARE THE DEFECTS CAUSED BY PHARMACOLOGI-CALLY INDUCED FETAL ARRHYTHMIAS?
K. Vaux
,
K. L. Jones
Journal of Investigative Medicine
2005
Corpus ID: 76575858
Ziprasidone is a new atypical antipsychotic medication used in the treatment of schizophrenia and other severe psychiatric…
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Highly Cited
1998
Highly Cited
1998
Inhibition of NF-κB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis
P. Bushdid
,
D. Brantley
,
+4 authors
L. Kerr
Nature
1998
Corpus ID: 4428637
In Drosophila, the Dorsal protein establishes the embryonic dorso–ventral axis during development. Here we show that the…
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1990
1990
Trisomy 22 with holoprosencephaly: a clinicopathologic study.
N. Isada
,
J. Bolan
,
J. Larsen
,
S. G. Kent
Teratology
1990
Corpus ID: 11163621
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…
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1973
1973
Coffin-Siris syndrome. Two new cases.
W. Weiswasser
,
B. Hall
,
G. W. Delavan
,
D. W. Smith
A M A Journal of Diseases of Children
1973
Corpus ID: 26981436
Two additional cases of a recently delineated pattern of malformation, the Coffin-Siris syndrome, bring the number of reported…
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