Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Journal of the Neurological Sciences|May 29, 2020
Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)Birgitte Rode Diness, Rachel Nina Palmquist, Rikke Norling, et al.
JIMD Reports|November 20, 2019
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP geneKristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, et al.
JIMD Reports|September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic CounsellingSabine Grønborg, Niklas Darin, Maria J Miranda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDGPeter Witters, Shawn Tahata, Rita Barone, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2020
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B GeneSara Bech, Annemette Løkkegaard, Troels T Nielsen, et al.
European Journal of Medical Genetics|September 4, 2025
Diagnostic yield of whole exome sequencing in a cohort of 825 patientsPeter Førster Andersen, Jakob Ek, Helena Gásdal Karstensen, et al.
Epilepsia|February 1, 2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201HSarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, et al.
Orphanet Journal of Rare Diseases|November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Molecular Genetics and Metabolism|March 13, 2022
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsyLaura A Tseng, Jose E Abdenur, Ashley Andrews, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
Pageof 3