Showing results (131-140 of 185) with videos related to

Sort By:
Pageof 19
Cell Death Discovery|March 28, 2026
Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D modelsChiara Parodi, Antonella Lettieri, Paolo Grazioli, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathiesJennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
Nature Genetics|December 16, 2014
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineagesAntonio Adamo, Sina Atashpaz, Pierre-Luc Germain, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family ManagementLaura Pezzoli, Lidia Pezzani, Ezio Bonanomi, et al.
Pageof 19