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Uwe Ahting

Showing results (21-30 of 36) with videos related to

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Orphanet Journal of Rare Diseases|April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotypeJohannes Koch, Peter Freisinger, René G Feichtinger, et al.
Journal of Muscle Research and Cell Motility|March 12, 2021
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"Anne Schänzer, Elisabeth Schumann, Diana Zengeler, et al.
Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Brain : a Journal of Neurology|December 14, 2020
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophyKorbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, 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.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Orphanet Journal of Rare Diseases|April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotypeJohannes Koch, Peter Freisinger, René G Feichtinger, et al.
Journal of Muscle Research and Cell Motility|March 12, 2021
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"Anne Schänzer, Elisabeth Schumann, Diana Zengeler, et al.
Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Brain : a Journal of Neurology|December 14, 2020
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophyKorbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, 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.
Pageof 4