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Birgit Haberberger

Showing results (1-10 of 10) with videos related to

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Journal of Medical Genetics|December 25, 2013
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyChristopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhoodMarie Collet, Zahra Assouline, Damien Bonnet, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Human Molecular Genetics|February 28, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiencyManuel Schiff, Birgit Haberberger, Chuanwu Xia, 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.
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.
The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Journal of Medical Genetics|December 25, 2013
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyChristopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhoodMarie Collet, Zahra Assouline, Damien Bonnet, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Human Molecular Genetics|February 28, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiencyManuel Schiff, Birgit Haberberger, Chuanwu Xia, 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.
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.
The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.
Pageof 1