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European Journal of Human Genetics : EJHG|December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinationsSarah Vergult, Andrew Dauber, Barbara Delle Chiaie, et al.European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.The Journal of Clinical Endocrinology and Metabolism|February 7, 2018
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic PopulationSafa Mujahid, Katharine F Hunt, Yee S Cheah, et al.American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsyVerity McClelland, Thomas Cullup, Istvan Bodi, et al.Neurology. Clinical Practice|May 29, 2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne SyndromeGeetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, et al.Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 19, 2018
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta PhenotypeTim Cundy, Michael Dray, John Delahunt, et al.Brain : a Journal of Neurology|December 1, 2023
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progressionHector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, et al.Human Mutation|February 13, 2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, et al.Pageof 6