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Patrick Calvas

Showing results (41-50 of 97) with videos related to

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Kidney International|July 22, 2011
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthoodStanislas Faguer, Stéphane Decramer, Nicolas Chassaing, et al.
Archives of Neurology|March 14, 2012
Exonic deletions of FXN and early-onset Friedreich ataxiaMathieu Anheim, Louise-Laure Mariani, Patrick Calvas, et al.
Molecular Vision|April 18, 2012
An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive errorDiana Abbott, Yi-Ju Li, Jeremy A Guggenheim, et al.
Annals of Neurology|August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and strokeIgor Sibon, Isabelle Coupry, Patrice Menegon, et al.
Journal of Medical Genetics|March 30, 2021
Activation of cryptic donor splice sites by non-coding and coding <i>PAX6</i> variants contributes to congenital aniridiaMaria Tarilonte, Patricia Ramos, Jennifer Moya, et al.
Investigative Ophthalmology & Visual Science|May 4, 2010
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohortRavikanth Metlapally, Chang-Seok Ki, Yi-Ju Li, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
European Journal of Human Genetics : EJHG|August 2, 2020
Confirmation of FZD5 implication in a cohort of 50 patients with ocular colobomaMarion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Investigative Ophthalmology & Visual Science|April 24, 2009
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locusRavikanth Metlapally, Yi-Ju Li, Khanh-Nhat Tran-Viet, et al.
Pageof 10

Showing results (41-50 of 97) with videos related to

Sort By:
Pageof 10
Kidney International|July 22, 2011
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthoodStanislas Faguer, Stéphane Decramer, Nicolas Chassaing, et al.
Archives of Neurology|March 14, 2012
Exonic deletions of FXN and early-onset Friedreich ataxiaMathieu Anheim, Louise-Laure Mariani, Patrick Calvas, et al.
Molecular Vision|April 18, 2012
An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive errorDiana Abbott, Yi-Ju Li, Jeremy A Guggenheim, et al.
Annals of Neurology|August 19, 2007
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and strokeIgor Sibon, Isabelle Coupry, Patrice Menegon, et al.
Journal of Medical Genetics|March 30, 2021
Activation of cryptic donor splice sites by non-coding and coding <i>PAX6</i> variants contributes to congenital aniridiaMaria Tarilonte, Patricia Ramos, Jennifer Moya, et al.
Investigative Ophthalmology & Visual Science|May 4, 2010
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohortRavikanth Metlapally, Chang-Seok Ki, Yi-Ju Li, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
European Journal of Human Genetics : EJHG|August 2, 2020
Confirmation of FZD5 implication in a cohort of 50 patients with ocular colobomaMarion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Investigative Ophthalmology & Visual Science|April 24, 2009
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locusRavikanth Metlapally, Yi-Ju Li, Khanh-Nhat Tran-Viet, et al.
Pageof 10