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American Journal of Medical Genetics. Part A|June 7, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlationsHolly Dubbs, Xilma Ortiz-Gonzalez, Eric D MarshAmerican Journal of Medical Genetics. Part A|February 18, 2017
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligenceColleen Keen, Carole Samango-Sprouse, Holly Dubbs, et al.Frontiers in Neurology|May 11, 2026
Clinical experience using trofinetide in Rett syndrome and related MECP2 diagnosis at the children's hospital of Philadelphia post approvalErin O'Connor Prange, Dennis Fleysh, Keerthana Reddy, et al.Journal of Pediatric Orthopedics|January 10, 2015
Melorheostosis: segmental osteopoikilosis or a separate entity?Muayad Kadhim, Matthew A Deardorff, Holly Dubbs, et al.Neurology. Genetics|December 22, 2025
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie SyndromeLara E Terry, Holly Dubbs, Kelly H Markwalter, et al.Cold Spring Harbor Molecular Case Studies|November 5, 2021
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndromeKayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, et al.Epilepsy Research|August 29, 2025
Natural history of epilepsy in FOXG1 SyndromeCaleb Rhodes, Benjamin Rees, Holly Dubbs, et al.American Journal of Medical Genetics. Part A|May 10, 2021
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelinesMindy Li, Jennifer Glass, Xiaoli Du, et al.American Journal of Medical Genetics. Part A|June 26, 2015
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disordersAddie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, et al.American Journal of Medical Genetics. Part A|May 16, 2017
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issuesMinjie Luo, Jinbo Fan, Tara L Wenger, et al.Pageof 4