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European Journal of Human Genetics : EJHG
|
May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors
G Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
European Journal of Medical Genetics
|
July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Frontiers in Endocrinology
|
July 17, 2023
Investigating the role of ASCC1 in the causation of bone fragility
Barbara Voraberger, Johannes A Mayr, Nadja Fratzl-Zelman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variants
Joseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Molecular Genetics and Metabolism
|
September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency
Samira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Medical Genetics
|
September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Page
of 18
Search research articles
Search
Showing results (81-90 of 178) with videos related to
Sort By:
Page
of 18
European Journal of Human Genetics : EJHG
|
May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors
G Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
European Journal of Medical Genetics
|
July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Frontiers in Endocrinology
|
July 17, 2023
Investigating the role of ASCC1 in the causation of bone fragility
Barbara Voraberger, Johannes A Mayr, Nadja Fratzl-Zelman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variants
Joseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Molecular Genetics and Metabolism
|
September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency
Samira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Medical Genetics
|
September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Page
of 18