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Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.American Journal of Medical Genetics. Part A|August 29, 2018
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's HospitalAlyssa L Ritter, Carey McDougall, Cara Skraban, et al.Molecular Genetics and Metabolism|May 27, 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Roberto Giugliani, Ida Vanessa D Schwartz, et al.Journal of Pediatric Rehabilitation Medicine|July 17, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseCeleste Decker, Zi-Fan Yu, Roberto Giugliani, et al.Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.Seminars in Hematology|October 7, 2004
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patientsNeal J Weinreb, Mario C Aggio, Hans C Andersson, et al.American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.Nature Genetics|October 27, 2009
Microduplications of 16p11.2 are associated with schizophreniaShane E McCarthy, Vladimir Makarov, George Kirov, et al.Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.Pageof 5