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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Academic Article
Why?
Complex Reoperation in a Patient With DiGeorge Syndrome.
Academic Article
Why?
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
Academic Article
Why?
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Academic Article
Why?
Imamoto, Akira
Person
Why?
DiGeorge Syndrome
Concept
Why?
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
Academic Article
Why?
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Academic Article
Why?
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
Academic Article
Why?
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Academic Article
Why?
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis.
Academic Article
Why?
Evidence that duplications of 22q11.2 protect against schizophrenia.
Academic Article
Why?
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Academic Article
Why?
The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.
Academic Article
Why?
Chaney, Mark
Person
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