Last Updated: 09/26/2026
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Found 48 publications
Oral Infigratinib Therapy in Children with Achondroplasia.
Journal: The New England journal of medicine
Published: November 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 12, 2023
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Journal: The Lancet. Child & adolescent health
Published: April 06, 2023
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 26, 2022
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Journal: Therapeutic advances in musculoskeletal disease
Published: December 22, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Journal: American journal of medical genetics. Part A
Published: May 11, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 01, 2021
Fetal Micrognathia and Airway Establishment on Placental Support.
Journal: NeoReviews
Published: January 02, 2021
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: August 01, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Journal: American journal of medical genetics. Part A
Published: June 12, 2020
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Journal: Birth defects research
Published: June 12, 2020
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.
Journal: European journal of medical genetics
Published: June 11, 2020
Last Updated: 09/26/2026