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Nicolas Chassaing

Showing results (31-40 of 101) with videos related to

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Ophthalmic Genetics|February 7, 2018
Identification of PITX3 mutations in individuals with various ocular developmental defectsCelia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, et al.
Journal of Nephrology|March 7, 2016
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counselingRoger Mieusset, Isabelle Fauquet, Dominique Chauveau, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
Kidney International|July 22, 2011
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthoodStanislas Faguer, Stéphane Decramer, Nicolas Chassaing, et al.
Molecular Syndromology|April 17, 2023
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to <i>ACAD9</i>-Related Mitochondrial Complex I DeficiencyCharlotte Dubucs, Jacqueline Aziza, Agnès Sartor, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
Journal of Medical Genetics|August 16, 2023
Clinical, genetic and biochemical signatures of <i>RBP4</i>-related ocular malformationsJulie Plaisancié, Jelena Martinovic, Bertrand Chesneau, et al.
Journal of Human Genetics|January 16, 2010
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 regionLaura M F Costrop, Olivier O M Vanakker, Lut Van Laer, et al.
Pageof 11

Showing results (31-40 of 101) with videos related to

Sort By:
Pageof 11
Ophthalmic Genetics|February 7, 2018
Identification of PITX3 mutations in individuals with various ocular developmental defectsCelia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, et al.
Journal of Nephrology|March 7, 2016
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counselingRoger Mieusset, Isabelle Fauquet, Dominique Chauveau, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
Kidney International|July 22, 2011
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthoodStanislas Faguer, Stéphane Decramer, Nicolas Chassaing, et al.
Molecular Syndromology|April 17, 2023
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to <i>ACAD9</i>-Related Mitochondrial Complex I DeficiencyCharlotte Dubucs, Jacqueline Aziza, Agnès Sartor, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
Journal of Medical Genetics|August 16, 2023
Clinical, genetic and biochemical signatures of <i>RBP4</i>-related ocular malformationsJulie Plaisancié, Jelena Martinovic, Bertrand Chesneau, et al.
Journal of Human Genetics|January 16, 2010
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 regionLaura M F Costrop, Olivier O M Vanakker, Lut Van Laer, et al.
Pageof 11