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Louise F Porter

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

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Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Clinical Epigenetics|January 16, 2019
Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genesLouise F Porter, Neil Saptarshi, Yongxiang Fang, et al.
Human Molecular Genetics|June 5, 2014
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconusJudith Lechner, Louise F Porter, Aine Rice, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
Journal of the American Geriatrics Society|April 1, 2021
Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adultsMaxence Meyer, Anita Meyer, Lidia Calabrese, et al.
Journal of the American Geriatrics Society|December 28, 2020
Clinical and Virological Follow-Up of a Cohort of 76 COVID-19 Older Hospitalized AdultsMaxence Meyer, Lidia Calabrese, Anita Meyer, et al.
Scientific Reports|December 20, 2019
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial KeratoconusMariam Lofty Khaled, Yelena Bykhovskaya, Chunfang Gu, 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.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Clinical Epigenetics|January 16, 2019
Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genesLouise F Porter, Neil Saptarshi, Yongxiang Fang, et al.
Human Molecular Genetics|June 5, 2014
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconusJudith Lechner, Louise F Porter, Aine Rice, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
Journal of the American Geriatrics Society|April 1, 2021
Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adultsMaxence Meyer, Anita Meyer, Lidia Calabrese, et al.
Journal of the American Geriatrics Society|December 28, 2020
Clinical and Virological Follow-Up of a Cohort of 76 COVID-19 Older Hospitalized AdultsMaxence Meyer, Lidia Calabrese, Anita Meyer, et al.
Scientific Reports|December 20, 2019
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial KeratoconusMariam Lofty Khaled, Yelena Bykhovskaya, Chunfang Gu, et al.
Pageof 2