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Maria Bitner-Glindzicz

Showing results (31-40 of 77) with videos related to

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BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
Neurogenetics|September 14, 2006
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationNicole I Wolf, Maria Cundall, Paul Rutland, et al.
Molecular Genetics and Metabolism|June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencingIsabelle Schrauwen, Manou Sommen, Jason J Corneveaux, et al.
Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Genes|July 25, 2019
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further CasesAmina Al Yassin, Felice D'Arco, Matías Morín, et al.
EMBO Molecular Medicine|August 29, 2023
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie diseaseValda Pauzuolyte, Aara Patel, James R Wawrzynski, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
Pageof 8

Showing results (31-40 of 77) with videos related to

Sort By:
Pageof 8
BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
Neurogenetics|September 14, 2006
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationNicole I Wolf, Maria Cundall, Paul Rutland, et al.
Molecular Genetics and Metabolism|June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencingIsabelle Schrauwen, Manou Sommen, Jason J Corneveaux, et al.
Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.
Genes|July 25, 2019
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further CasesAmina Al Yassin, Felice D'Arco, Matías Morín, et al.
EMBO Molecular Medicine|August 29, 2023
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie diseaseValda Pauzuolyte, Aara Patel, James R Wawrzynski, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
Pageof 8