
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.
Journal: Journal of medical genetics
Published: November 04, 2025
Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031).
Journal: Journal of neurodevelopmental disorders
Published: October 07, 2025
Long-term safety and tolerability of transdermal cannabidiol gel in children and adolescents with Fragile X syndrome (ZYN2-CL-017): an interim analysis of an ongoing open-label extension study.
Journal: Journal of neurodevelopmental disorders
Published: February 14, 2025
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Journal: Biomedicines
Published: March 22, 2024
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Journal: Clinical genetics
Published: February 25, 2023
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Journal: American journal of medical genetics. Part A
Published: March 22, 2022
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
Journal: Journal of neurodevelopmental disorders
Published: April 21, 2021
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
Journal: Journal of medical genetics
Published: November 21, 2020
The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders.
Journal: Journal of personalized medicine
Published: November 12, 2020
Behavioral profiles in Rett syndrome: Data from the natural history study.
Journal: Brain & development
Published: June 26, 2018
Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.
Journal: Neurology
Published: January 05, 2018
Training the Motor Aspects of Pre-driving Skills of Young Adults With and Without Autism Spectrum Disorder.
Journal: Journal of autism and developmental disorders
Published: April 09, 2016
Showing 1-12 of 12
Last Updated: 09/26/2026