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Pediatrics|March 16, 2011
Growth standards of infants with Prader-Willi syndromeMerlin G Butler, Jennifer Sturich, Jaehoon Lee, et al.European Journal of Human Genetics : EJHG|May 25, 2007
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlationsTrilochan Sahoo, Carlos A Bacino, Jennifer R German, et al.Neuromuscular Disorders : NMD|January 14, 2015
A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutationAbhilasha Surampalli, Brian T Gold, Charles Smith, et al.Annals of Neurology|February 26, 2005
Mutant valosin-containing protein causes a novel type of frontotemporal dementiaRolf Schröder, Giles D J Watts, Sarju G Mehta, et al.Journal of Genetic Counseling|February 27, 2015
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal DementiaAbhilasha Surampalli, Manaswitha Khare, Georgette Kubrussi, et al.Neuromuscular Disorders : NMD|May 15, 2018
Novel valosin-containing protein mutations associated with multisystem proteinopathySejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, et al.Clinical and Translational Science|October 15, 2013
Cytokine profiling in patients with VCP-associated diseaseEric Dec, Prachi Rana, Veeral Katheria, et al.Clinical Pediatrics|February 5, 2016
Growth Charts for Prader-Willi Syndrome During Growth Hormone TreatmentMerlin G Butler, Jaehoon Lee, Devin M Cox, et al.Journal of Medical Genetics|June 8, 2021
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndromeYue Huang, Katheryn Grand, Virginia Kimonis, et al.Neurology. Genetics|January 16, 2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem ProteinopathyAlyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, et al.Pageof 12