Last Updated: 09/26/2026
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Found 19 publications
Systematic phenotype and genotype characterization of Moebius syndrome.
Journal: Genetics in medicine open
Published: November 05, 2024
Safety and Efficacy of Denosumab for Fibrous Dysplasia of Bone.
Journal: The New England journal of medicine
Published: February 22, 2023
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Journal: American journal of medical genetics. Part A
Published: February 14, 2023
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Journal: American journal of medical genetics. Part A
Published: May 06, 2022
Selumetinib in children with neurofibromatosis type 1 and asymptomatic inoperable plexiform neurofibroma at risk for developing tumor-related morbidity.
Journal: Neuro-oncology
Published: April 25, 2022
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Journal: Human genetics
Published: August 06, 2021
Selumetinib in Children with Inoperable Plexiform Neurofibromas.
Journal: The New England journal of medicine
Published: March 19, 2020
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Journal: American journal of human genetics
Published: November 26, 2018
Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: August 25, 2018
Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: January 20, 2018
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Journal: The Journal of clinical investigation
Published: November 21, 2017
The optimal orthosis and motion protocol for extensor tendon injury in zones IV-VIII: A systematic review.
Journal: Journal of hand therapy : official journal of the American Society of Hand Therapists
Published: July 20, 2016
Last Updated: 09/26/2026