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Ebiomedicine|November 7, 2025
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based studyJesia G Berry, Ajay Taranath, Robert Goetti, et al.Neuron|October 6, 2019
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune ResponseJennifer L Johnson, Loredana Stoica, Yuwei Liu, et al.NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 9, 2010
Osteopathia striata with cranial sclerosis owing to WTX gene defectBram Perdu, Fenna de Freitas, Suzanne G M Frints, et al.Plos One|February 26, 2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol Dobson-Stone, Marianne Hallupp, Clement T Loy, et al.Pathology|December 5, 2013
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, John C Mulley, et al.American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.Science (New York, N.Y.)|April 9, 2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHuiling He, Sandya Liyanarachchi, Keiko Akagi, et al.Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.Pageof 29