I feel honored to search for cures that improve the lives of children.
Where I see patients (2)
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics
ARF1-related disorder: phenotypic and molecular spectrum.
Journal of medical genetics
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain : a journal of neurology
Smell the roses