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American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.European Journal of Human Genetics : EJHG|June 6, 2025
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvementDavide Leardini, Elisabetta Flex, Elliot Stieglitz, et al.European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.Journal of Medical Genetics|December 16, 2020
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesisLisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.Pageof 12