Anne-marie S. Bisgaard

Copenhagen, Denmark

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 publications

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome.

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome.

Journal: Frontiers in neurology

Published: September 10, 2025

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Journal: European journal of medical genetics

Published: April 30, 2025

The natural history of CDKL5 deficiency disorder into adulthood.

The natural history of CDKL5 deficiency disorder into adulthood.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 2025

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Journal: Ophthalmic genetics

Published: February 01, 2024

SMC1A epilepsy syndrome: clinical data from a large international cohort.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Journal: American journal of medical genetics. Part A

Published: November 04, 2023

Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review.

Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review.

Journal: Journal of applied research in intellectual disabilities : JARID

Published: March 16, 2023

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal: Journal of medical genetics

Published: January 03, 2023

Oliver McFarlane syndrome: two new cases and a review of the literature.

Oliver McFarlane syndrome: two new cases and a review of the literature.

Journal: Ophthalmic genetics

Published: April 05, 2021

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.

Journal: American journal of medical genetics. Part A

Published: March 23, 2021

DLG4-related synaptopathy: a new rare brain disorder.

DLG4-related synaptopathy: a new rare brain disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 16, 2020

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Journal: Human genetics

Published: January 07, 2020

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome.

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome.

Journal: Physical therapy

Published: June 12, 2019

Showing 1-12 of 31

Last Updated: 09/26/2026