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Boris Rolinski

Showing results (11-20 of 18) with videos related to

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Journal of Inherited Metabolic Disease|March 18, 2015
Spectrum of combined respiratory chain defectsJohannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|September 13, 2021
SARS-CoV-2 rapid antigen testing in the healthcare sector: A clinical prediction model for identifying false negative resultsJohannes Leiner, Vincent Pellissier, Anne Nitsche, 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.
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.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Journal of Inherited Metabolic Disease|March 18, 2015
Spectrum of combined respiratory chain defectsJohannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|September 13, 2021
SARS-CoV-2 rapid antigen testing in the healthcare sector: A clinical prediction model for identifying false negative resultsJohannes Leiner, Vincent Pellissier, Anne Nitsche, 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.
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.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 2