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Eva Morava

Showing results (321-330 of 355) with videos related to

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Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Oral D-galactose supplementation in PGM1-CDGSunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeEmma M Wade, Zandra A Jenkins, Philip B Daniel, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Cell Metabolism|December 14, 2011
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in manAdriaan G Holleboom, Helen Karlsson, Ruei-Shiuan Lin, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Pageof 36

Showing results (321-330 of 355) with videos related to

Sort By:
Pageof 36
Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Oral D-galactose supplementation in PGM1-CDGSunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
American Journal of Medical Genetics. Part A|May 13, 2017
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeEmma M Wade, Zandra A Jenkins, Philip B Daniel, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Cell Metabolism|December 14, 2011
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in manAdriaan G Holleboom, Helen Karlsson, Ruei-Shiuan Lin, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Pageof 36