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Clinical Case Reports|September 8, 2017
Severe phenotype of X-linked dominant chondrodysplasia punctataNadirah Damseh, Karen Chong, Christian Marshall, et al.Clinical Genetics|August 30, 2024
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotypeKarina C Silveira, Anastasia Ambrose, Taryn Athey, et al.Case Reports in Pediatrics|December 1, 2012
A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilitiesShalinder Singh, Fern Ashton, Renate Marquis-Nicholson, et al.Orphanet Journal of Rare Diseases|June 29, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?Nadirah Damseh, Jennifer Stimec, Alan O'Brien, et al.Genes|January 21, 2023
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye DiseaseLinda M Reis, Huban Atilla, Peter Kannu, et al.Neurogenetics|March 5, 2013
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotypeHeather R Tiffin, Zandra A Jenkins, Mary J Gray, et al.The Journal of Dermatology|July 1, 2020
Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancyBrian R Earl, Marta Szybowska, Ashish Marwaha, et al.Journal of Cutaneous Medicine and Surgery|April 28, 2017
Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution ExperienceIrene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, et al.Pediatric Dermatology|February 18, 2022
Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in TorontoMohammed Albaghdadi, Maria Berseneva, Alexandra Pennal, et al.Arthritis and Rheumatism|February 5, 2010
Premature arthritis is a distinct type II collagen phenotypePeter Kannu, John F Bateman, Susan Randle, et al.Pageof 13