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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.
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.
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
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.