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American Journal of Medical Genetics. Part A|January 18, 2018
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1Juliette Piard, James Lespinasse, Marketa Vlckova, et al.Molecular Autism|February 6, 2021
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASDJoana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, et al.Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.Brain : a Journal of Neurology|July 10, 2004
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi, Peter Van den Bergh, Luciano Merlini, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeBrian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.Saudi Medical Journal|March 15, 2006
Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associationsMustafa A Salih, Waleed R Murshid, Mussaad M Al-Salman, et al.Metabolic Brain Disease|February 14, 2018
Treatment outcome of creatine transporter deficiency: international retrospective cohort studyTheodora U J Bruun, Sarah Sidky, Anabela O Bandeira, et al.Clinical Genetics|January 28, 2021
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotypeAuriane Cospain, Elise Schaefer, Marie Faoucher, et al.Brain : a Journal of Neurology|February 2, 2018
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathyJuliette Piard, George K Essien Umanah, Frederike L Harms, et al.Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.Pageof 13