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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Growth parameters in children with achondroplasia: A�7-year, prospective, multinational, observational study.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
DLG4-related synaptopathy: a new rare brain disorder.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Automated syndrome diagnosis by three-dimensional facial imaging.
Optimizing genetics online resources for diverse readers.
Genetics workforce: distribution of genetics services and challenges to health care in California.