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JIMD reports

Showing results (151-160 of 1,270) with videos related to

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JIMD Reports|December 21, 2018
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry VariantAndrew Talbot, Kathy Nicholls
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
JIMD Reports|December 21, 2018
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 DeficiencyAndrea Medrano Behlmann, Namita A Goyal, Xiaoyu Yang, et al.
JIMD Reports|April 6, 2013
Liver transplantation prevents progressive neurological impairment in argininemiaE Santos Silva, M L Cardoso, L Vilarinho, et al.
JIMD Reports|April 17, 2013
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine BitartrateM Gavin, G Y Wen, J Messing, et al.
JIMD Reports|July 26, 2014
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusAlessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, et al.
JIMD Reports|July 13, 2013
Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G MutationFady Hannah-Shmouni, Sandra Sirrs, Michelle M Mezei, et al.
JIMD Reports|July 13, 2013
Pulmonary manifestations in a patient with transaldolase deficiencyNada Jassim, Mohammed Alghaihab, Suhail Al Saleh, et al.
JIMD Reports|April 13, 2013
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC TypePaul Hoff Backe, Mari Ytre-Arne, Asmund Kjendseth Røhr, et al.
JIMD Reports|May 24, 2013
Fatty Acid oxidation disorders in a chinese population in taiwanYin-Hsiu Chien, Ni-Chung Lee, Mei-Chyn Chao, et al.
Pageof 127

Showing results (151-160 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|December 21, 2018
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry VariantAndrew Talbot, Kathy Nicholls
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
JIMD Reports|December 21, 2018
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 DeficiencyAndrea Medrano Behlmann, Namita A Goyal, Xiaoyu Yang, et al.
JIMD Reports|April 6, 2013
Liver transplantation prevents progressive neurological impairment in argininemiaE Santos Silva, M L Cardoso, L Vilarinho, et al.
JIMD Reports|April 17, 2013
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine BitartrateM Gavin, G Y Wen, J Messing, et al.
JIMD Reports|July 26, 2014
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusAlessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, et al.
JIMD Reports|July 13, 2013
Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G MutationFady Hannah-Shmouni, Sandra Sirrs, Michelle M Mezei, et al.
JIMD Reports|July 13, 2013
Pulmonary manifestations in a patient with transaldolase deficiencyNada Jassim, Mohammed Alghaihab, Suhail Al Saleh, et al.
JIMD Reports|April 13, 2013
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC TypePaul Hoff Backe, Mari Ytre-Arne, Asmund Kjendseth Røhr, et al.
JIMD Reports|May 24, 2013
Fatty Acid oxidation disorders in a chinese population in taiwanYin-Hsiu Chien, Ni-Chung Lee, Mei-Chyn Chao, et al.
Pageof 127