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Neuromuscular Disorders : NMD|May 1, 1995
Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriersP M Matthews, D Benjamin, I Van Bakel, et al.Pediatrics|February 24, 2023
Congenital Hypothyroidism: Screening and ManagementSusan R Rose, Ari J Wassner, Kupper A Wintergerst, et al.Pediatrics|February 24, 2023
Congenital Hypothyroidism: Screening and ManagementSusan R Rose, Ari J Wassner, Kupper A Wintergerst, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Fabry disease in infancy and early childhood: a systematic literature reviewDawn A Laney, Dawn S Peck, Andrea M Atherton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance inductionCindy Li, Ankit K Desai, Punita Gupta, et al.Journal of Medical Genetics|March 13, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroupDominique P Germain, João Paulo Oliveira, Daniel G Bichet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2010
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry RegistryTorquil Watt, Alessandro P Burlina, Chiara Cazzorla, et al.Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.Clinical and Experimental Immunology|March 9, 2023
PEPITEM modulates leukocyte trafficking to reduce obesity-induced inflammationLaleh Pezhman, Sophie J Hopkin, Jenefa Begum, et al.Experimental Neurology|May 29, 2019
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequenceMarshall Lukacs, Jonathan Gilley, Yi Zhu, et al.Pageof 20