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Biology Open|April 22, 2022
Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1Julia Yerger, Antony C Cougnoux, Craig B Abbott, et al.American Journal of Medical Genetics. Part A|December 16, 2021
Use of the Vineland-3, a measure of adaptive functioning, in CLN3An N Dang Do, Audrey E Thurm, Cristan A Farmer, et al.American Journal of Medical Genetics. Part A|May 6, 2016
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patientsStephanie M Cologna, Christine Shieh, Cynthia L Toth, et al.Molecular Genetics and Metabolism|July 20, 2015
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1Timothy J Maarup, Agnes H Chen, Forbes D Porter, et al.Molecular Genetics and Metabolism|January 13, 2026
Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1Neena Agrawal, Simona Bianconi, Rebecca Jaeger, et al.Nature Genetics|March 26, 2003
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesisMichael K Cooper, Christopher A Wassif, Patrycja A Krakowiak, et al.Development (Cambridge, England)|March 16, 2021
The role of Niemann-Pick type C2 in zebrafish embryonic developmentWei-Chia Tseng, Ana J Johnson Escauriza, Chon-Hwa Tsai-Morris, et al.Molecular Genetics and Metabolism|September 3, 2018
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spotsXuntian Jiang, Rohini Sidhu, Joseph J Orsini, et al.Human Molecular Genetics|April 4, 2007
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiencyChristopher A Wassif, Kirstyn E Brownson, Allison L Sterner, et al.Nature Communications|November 9, 2019
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian processChao Wang, Samantha M Scott, Kanagaraj Subramanian, et al.Pageof 20