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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.

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

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Growth parameters in children with achondroplasia: A�7-year, prospective, multinational, observational study.

  • Read more about 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.

  • Read more about 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.

  • Read more about 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.

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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

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DLG4-related synaptopathy: a new rare brain disorder.

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

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Automated syndrome diagnosis by three-dimensional facial imaging.

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