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Gilles Millat

Showing results (11-20 of 58) with videos related to

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Gene|July 18, 2018
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathyAlexandre Janin, Francis Bessière, Samuel Chauveau, et al.
Orphanet Journal of Rare Diseases|September 1, 2017
Nuclear envelopathies: a complex LINC between nuclear envelope and pathologyAlexandre Janin, Delphine Bauer, Francesca Ratti, et al.
Human Mutation|June 7, 2005
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutationsKarim Chikh, Céline Rodriguez, Sébastien Vey, et al.
European Journal of Medical Genetics|July 25, 2015
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathyGilles Millat, Alexandre Janin, Olivier de Tauriac, et al.
Molecular Genetics and Metabolism|November 16, 2004
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 proteinKarim Chikh, Sébastien Vey, Cédric Simonot, et al.
European Journal of Medical Genetics|August 25, 2018
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndromeAlexandre Janin, Francis Bessière, Tudor Georgescu, et al.
Molecular Diagnosis & Therapy|May 6, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 YearsAlexandre Janin, Louis Januel, Cécile Cazeneuve, et al.
Clinical Biochemistry|March 26, 2009
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA geneGilles Millat, Valérie Chanavat, Sophie Julia, et al.
Molecular Genetics and Metabolism|August 30, 2005
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and familiesGilles Millat, Nathalie Baïlo, Sabine Molinero, et al.
Gene|December 12, 2023
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndromeAntoine Delinière, Laureen Jaupart, Alexandre Janin, et al.
Pageof 6

Showing results (11-20 of 58) with videos related to

Sort By:
Pageof 6
Gene|July 18, 2018
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathyAlexandre Janin, Francis Bessière, Samuel Chauveau, et al.
Orphanet Journal of Rare Diseases|September 1, 2017
Nuclear envelopathies: a complex LINC between nuclear envelope and pathologyAlexandre Janin, Delphine Bauer, Francesca Ratti, et al.
Human Mutation|June 7, 2005
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutationsKarim Chikh, Céline Rodriguez, Sébastien Vey, et al.
European Journal of Medical Genetics|July 25, 2015
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathyGilles Millat, Alexandre Janin, Olivier de Tauriac, et al.
Molecular Genetics and Metabolism|November 16, 2004
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 proteinKarim Chikh, Sébastien Vey, Cédric Simonot, et al.
European Journal of Medical Genetics|August 25, 2018
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndromeAlexandre Janin, Francis Bessière, Tudor Georgescu, et al.
Molecular Diagnosis & Therapy|May 6, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 YearsAlexandre Janin, Louis Januel, Cécile Cazeneuve, et al.
Clinical Biochemistry|March 26, 2009
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA geneGilles Millat, Valérie Chanavat, Sophie Julia, et al.
Molecular Genetics and Metabolism|August 30, 2005
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and familiesGilles Millat, Nathalie Baïlo, Sabine Molinero, et al.
Gene|December 12, 2023
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndromeAntoine Delinière, Laureen Jaupart, Alexandre Janin, et al.
Pageof 6