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Nicolas Chassaing

Showing results (1-10 of 101) with videos related to

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Journal of Pediatric Genetics|November 30, 2016
Genetic Advances in MicrophthalmiaJulie Plaisancie, Patrick Calvas, Nicolas Chassaing
Genetic Testing and Molecular Biomarkers|April 29, 2009
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmiaNicolas Chassaing, Adeline Vigouroux, Patrick Calvas
Human Mutation|September 8, 2007
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patientsNicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, et al.
Ophthalmic Genetics|February 17, 2025
Genetic screening of the RNA-binding protein RBM24 and its binding sites in the <i>SOX2</i> 3' untranslated region in a cohort of 50 patients with micro-anophthalmiaJulien Noero, Mathys Weber, Nicolas Chassaing, et al.
Nephrologie & Therapeutique|October 15, 2013
[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease]Dominique Chauveau, Stanislas Faguer, Flavio Bandin, et al.
Molecular Vision|January 5, 2011
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmiaAnnaïck Desmaison, Adeline Vigouroux, Claudine Rieubland, et al.
European Journal of Medical Genetics|July 20, 2012
Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?Stanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Birth Defects Research|April 12, 2017
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndromeSamantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, et al.
American Journal of Medical Genetics. Part A|August 19, 2003
Donnai-Barrow syndrome: four additional patientsNicolas Chassaing, Didier Lacombe, Dominique Carles, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypesLinda M Reis, Nicolas Chassaing, Tanya Bardakjian, et al.
Pageof 11

Showing results (1-10 of 101) with videos related to

Sort By:
Pageof 11
Journal of Pediatric Genetics|November 30, 2016
Genetic Advances in MicrophthalmiaJulie Plaisancie, Patrick Calvas, Nicolas Chassaing
Genetic Testing and Molecular Biomarkers|April 29, 2009
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmiaNicolas Chassaing, Adeline Vigouroux, Patrick Calvas
Human Mutation|September 8, 2007
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patientsNicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, et al.
Ophthalmic Genetics|February 17, 2025
Genetic screening of the RNA-binding protein RBM24 and its binding sites in the <i>SOX2</i> 3' untranslated region in a cohort of 50 patients with micro-anophthalmiaJulien Noero, Mathys Weber, Nicolas Chassaing, et al.
Nephrologie & Therapeutique|October 15, 2013
[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease]Dominique Chauveau, Stanislas Faguer, Flavio Bandin, et al.
Molecular Vision|January 5, 2011
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmiaAnnaïck Desmaison, Adeline Vigouroux, Claudine Rieubland, et al.
European Journal of Medical Genetics|July 20, 2012
Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?Stanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Birth Defects Research|April 12, 2017
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndromeSamantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, et al.
American Journal of Medical Genetics. Part A|August 19, 2003
Donnai-Barrow syndrome: four additional patientsNicolas Chassaing, Didier Lacombe, Dominique Carles, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypesLinda M Reis, Nicolas Chassaing, Tanya Bardakjian, et al.
Pageof 11