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Alain Calender

Showing results (61-70 of 71) with videos related to

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Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
BMC Medical Genomics|March 8, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosisAlain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, et al.
Applied & Translational Genomics|April 8, 2016
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovASarra Dimassi, Thomas Simonet, Audrey Labalme, et al.
Epilepsia|August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora diseaseGaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
Annales D'Endocrinologie|July 7, 2014
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?Cecile Nozières, Chang-Xian Zhang, Alexandre Buffet, et al.
Respiratory Medicine and Research|April 23, 2023
French recommendations for the diagnosis and management of lymphangioleiomyomatosisVincent Cottin, Elodie Blanchard, Mallorie Kerjouan, et al.
Human Molecular Genetics|February 5, 2013
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort studyJulien Thevenon, Abderrahmane Bourredjem, Laurence Faivre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 25, 2007
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 familiesAdrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, et al.
Breast Cancer Research : BCR|February 22, 2012
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersAntonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, et al.
Human Mutation|January 19, 2012
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriersSusan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
BMC Medical Genomics|March 8, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosisAlain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, et al.
Applied & Translational Genomics|April 8, 2016
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovASarra Dimassi, Thomas Simonet, Audrey Labalme, et al.
Epilepsia|August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora diseaseGaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
Annales D'Endocrinologie|July 7, 2014
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?Cecile Nozières, Chang-Xian Zhang, Alexandre Buffet, et al.
Respiratory Medicine and Research|April 23, 2023
French recommendations for the diagnosis and management of lymphangioleiomyomatosisVincent Cottin, Elodie Blanchard, Mallorie Kerjouan, et al.
Human Molecular Genetics|February 5, 2013
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort studyJulien Thevenon, Abderrahmane Bourredjem, Laurence Faivre, et al.
The Journal of Clinical Endocrinology and Metabolism|January 25, 2007
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 familiesAdrian F Daly, Jean-François Vanbellinghen, Sok Kean Khoo, et al.
Breast Cancer Research : BCR|February 22, 2012
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersAntonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, et al.
Human Mutation|January 19, 2012
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriersSusan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, et al.
Pageof 8