Showing results (91-100 of 117) with videos related to
Sort By:
Pageof 12
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.Cell|October 16, 2018
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain DevelopmentAndrew T N Tebbenkamp, Luis Varela, Jinmyung Choi, et al.Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.Elife|August 27, 2025
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.Neurology|May 13, 2018
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2Erik Boot, Nancy J Butcher, Sean Udow, et al.Pageof 12