Showing results (51-60 of 110) with videos related to

Sort By:
Pageof 11
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Frontiers in Neuroscience|June 26, 2020
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical DevelopmentMichele Iacomino, Simona Baldassari, Yuki Tochigi, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 5, 2024
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected IndividualsMeagan L Collins Hutchinson, Judith St-Onge, Sabrina Schlienger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?Cathryn J Poulton, Rachel Schot, Katja Seufert, et al.
Frontiers in Cellular Neuroscience|October 13, 2025
A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disordersGabriele Di Pasquale, Jacopo Colella, Carola P Di Cataldo, et al.
Pageof 11