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Cell Reports. Medicine
|
April 26, 2024
CRISPR-Cas9-mediated deletion of carbonic anhydrase 2 in the ciliary body to treat glaucoma
Jiaxuan Jiang, Kangjie Kong, Xiuli Fang, et al.
The British Journal of Ophthalmology
|
March 19, 2017
Childhood-onset Leber hereditary optic neuropathy
Anna Majander, Richard Bowman, Joanna Poulton, et al.
Human Molecular Genetics
|
October 19, 2012
Universal heteroplasmy of human mitochondrial DNA
Brendan A I Payne, Ian J Wilson, Patrick Yu-Wai-Man, et al.
Investigative Ophthalmology & Visual Science
|
December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Neringa Jurkute, Fabiana D'Esposito, Anthony G Robson, et al.
Biochimica Et Biophysica Acta
|
December 9, 2010
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
Joanna D Stewart, Susanne Schoeler, Kamil S Sitarz, et al.
Neurobiology of Aging
|
October 22, 2011
Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population
Lu Hua Chen, Patrick Yu Ping Kao, Yan Hui Fan, et al.
Ophthalmology
|
April 27, 2010
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
Patrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, et al.
Brain : a Journal of Neurology
|
December 16, 2014
Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle, Tania Smertenko, David Bargiela, et al.
Human Molecular Genetics
|
March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
Cécile Rouzier, David Moore, Cécile Delorme, et al.
BMC Neurology
|
July 12, 2022
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report
Nancy J Newman, Matthew Schniederjan, Pia R Mendoza, et al.
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of 19
Search research articles
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Showing results (111-120 of 183) with videos related to
Sort By:
Page
of 19
Cell Reports. Medicine
|
April 26, 2024
CRISPR-Cas9-mediated deletion of carbonic anhydrase 2 in the ciliary body to treat glaucoma
Jiaxuan Jiang, Kangjie Kong, Xiuli Fang, et al.
The British Journal of Ophthalmology
|
March 19, 2017
Childhood-onset Leber hereditary optic neuropathy
Anna Majander, Richard Bowman, Joanna Poulton, et al.
Human Molecular Genetics
|
October 19, 2012
Universal heteroplasmy of human mitochondrial DNA
Brendan A I Payne, Ian J Wilson, Patrick Yu-Wai-Man, et al.
Investigative Ophthalmology & Visual Science
|
December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Neringa Jurkute, Fabiana D'Esposito, Anthony G Robson, et al.
Biochimica Et Biophysica Acta
|
December 9, 2010
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
Joanna D Stewart, Susanne Schoeler, Kamil S Sitarz, et al.
Neurobiology of Aging
|
October 22, 2011
Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population
Lu Hua Chen, Patrick Yu Ping Kao, Yan Hui Fan, et al.
Ophthalmology
|
April 27, 2010
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
Patrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, et al.
Brain : a Journal of Neurology
|
December 16, 2014
Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle, Tania Smertenko, David Bargiela, et al.
Human Molecular Genetics
|
March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
Cécile Rouzier, David Moore, Cécile Delorme, et al.
BMC Neurology
|
July 12, 2022
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report
Nancy J Newman, Matthew Schniederjan, Pia R Mendoza, et al.
Page
of 19