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B Wortmann

Showing results (141-150 of 205) with videos related to

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Clinical Genetics|January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunctionDaan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
The Journal of Pediatrics|May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 DeficiencySunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Pageof 21

Showing results (141-150 of 205) with videos related to

Sort By:
Pageof 21
Clinical Genetics|January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunctionDaan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
The Journal of Pediatrics|May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 DeficiencySunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Pageof 21