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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Clinical presentation and disease course of inflammatory bowel disease differs by race in a large tertiary care hospital.
The new age of molecular diagnostics for microbial agents.
Placental transfer of anti-tumor necrosis factor agents in pregnant patients with inflammatory bowel disease.
Expanding the KIF4A-associated phenotype.
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Expanding the KIF4A-associated phenotype.
Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739.
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PubMed
subject areas
Abnormalities, Multiple
Brain
Epilepsy
Female
Genetic Association Studies
Humans
Intellectual Disability
Male
Mutation, Missense
Neurodevelopmental Disorders
Neurons
Phenotype
Urogenital Abnormalities
Vesico-Ureteral Reflux
authors with profiles
William B. Dobyns