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DiGeorge Syndrome

Known as: Digeorge's syndrome, digeorges syndrome, digeorge syndromes 
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de… 
Highly Cited
2014
Highly Cited
2014
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically… 
Review
2011
Review
2011
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It… 
Highly Cited
2004
Highly Cited
2004
MicroRNAs (miRNAs) are a growing family of small non-protein-coding regulatory genes that regulate the expression of homologous… 
Highly Cited
2001
Highly Cited
2001
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of… 
Highly Cited
1999
Highly Cited
1999
The heterozygous chromosome deletion within the band 22q11 (del22q11) is an important cause of congenital cardiovascular defects… 
Review
1990
Review
1990
BRUNO LATOUR, The pasteurization of France, trans. Alan Sheridan and John Law, Cambridge, Mass., and London, Harvard University…