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Journal of Pediatric Genetics
|
November 30, 2016
Genetic Advances in Microphthalmia
Julie Plaisancie, Patrick Calvas, Nicolas Chassaing
International Journal of Molecular Sciences
|
January 21, 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, et al.
The International Journal of Developmental Biology
|
September 15, 2020
Developmental delay during eye morphogenesis underlies optic cup and neurogenesis defects in <i>mab21l2<sup>u517</sup></i> zebrafish mutants
Rebecca Wycliffe, Julie Plaisancie, Sydney Leaman, et al.
Archives of Cardiovascular Diseases
|
November 19, 2019
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
Sebastien Hascoet, Thomas Edouard, Julie Plaisancie, et al.
Ophthalmic Genetics
|
January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivity
Richard Holt, David Goudie, Alejandra Damián Verde, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Journal of Pediatric Genetics
|
November 30, 2016
Genetic Advances in Microphthalmia
Julie Plaisancie, Patrick Calvas, Nicolas Chassaing
International Journal of Molecular Sciences
|
January 21, 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, et al.
The International Journal of Developmental Biology
|
September 15, 2020
Developmental delay during eye morphogenesis underlies optic cup and neurogenesis defects in <i>mab21l2<sup>u517</sup></i> zebrafish mutants
Rebecca Wycliffe, Julie Plaisancie, Sydney Leaman, et al.
Archives of Cardiovascular Diseases
|
November 19, 2019
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
Sebastien Hascoet, Thomas Edouard, Julie Plaisancie, et al.
Ophthalmic Genetics
|
January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivity
Richard Holt, David Goudie, Alejandra Damián Verde, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Page
of 1