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Patrick Calvas

Showing results (51-60 of 97) with videos related to

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European Journal of Human Genetics : EJHG|March 30, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmiaYesim Kesim, Fabiola Ceroni, Alejandra Damián, et al.
Human Mutation|March 25, 2009
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaNicolas Chassaing, Christelle Golzio, Sylvie Odent, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Investigative Ophthalmology & Visual Science|February 21, 2013
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2Felicia Hawthorne, Sheng Feng, Ravikanth Metlapally, et al.
Journal of Neurology|October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxiaClaire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
An international collaborative family-based whole-genome linkage scan for high-grade myopiaYi-Ju Li, Jeremy A Guggenheim, Anuradha Bulusu, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
JAMA Ophthalmology|July 5, 2014
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencingAlan F Scott, David W Mohr, Laura M Kasch, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Pageof 10

Showing results (51-60 of 97) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|March 30, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmiaYesim Kesim, Fabiola Ceroni, Alejandra Damián, et al.
Human Mutation|March 25, 2009
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaNicolas Chassaing, Christelle Golzio, Sylvie Odent, et al.
European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Investigative Ophthalmology & Visual Science|February 21, 2013
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2Felicia Hawthorne, Sheng Feng, Ravikanth Metlapally, et al.
Journal of Neurology|October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxiaClaire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
Investigative Ophthalmology & Visual Science|March 28, 2009
An international collaborative family-based whole-genome linkage scan for high-grade myopiaYi-Ju Li, Jeremy A Guggenheim, Anuradha Bulusu, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
JAMA Ophthalmology|July 5, 2014
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencingAlan F Scott, David W Mohr, Laura M Kasch, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Pageof 10