Showing results (181-190 of 328) with videos related to
Sort By:
Pageof 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.Journal of Molecular Neuroscience : MN|December 15, 2022
Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel VariantsMohammad Soudyab, Mohammad Shariati, Reza Jafarzadeh Esfehani, et al.Scientific Reports|October 29, 2023
Summer paleohydrology during the Late Glacial and Early Holocene based on δ2H and δ18O from Bichlersee, BavariaMaximilian Prochnow, Paul Strobel, Marcel Bliedtner, et al.Frontiers in Neurology|May 31, 2021
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and SpeechMaria Abel, Robert Pfister, Iman Hussein, et al.Brain : a Journal of Neurology|September 15, 2004
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorderAmanPreet Badhwar, Samuel F Berkovic, John P Dowling, et al.Health Policy (Amsterdam, Netherlands)|October 10, 2021
Tackling the COVID-19 pandemic: Initial responses in 2020 in selected social health insurance countries in Europe☆Andrea E Schmidt, Sherry Merkur, Anita Haindl, et al.Parkinsonism & Related Disorders|March 15, 2025
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballismEfthymia Kafantari, Victoria J Hernandez, Ján Necpál, et al.Pageof 33