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Alain Calender

Showing results (51-60 of 71) with videos related to

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American Journal of Respiratory and Critical Care Medicine|February 14, 2024
Aberrant Lipid Metabolism in Macrophages Is Associated with Granuloma Formation in SarcoidosisClarice X Lim, Anna Redl, Lisa Kleissl, et al.
Human Mutation|April 2, 2010
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an updateAnélia Horvath, Jérôme Bertherat, Lionel Groussin, et al.
World Journal of Surgery|March 19, 2009
Thymic neuroendocrine tumors in multiple endocrine neoplasia type 1: a comparative study on 21 cases among a series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)Pierre Goudet, Arnaud Murat, Catherine Cardot-Bauters, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Cancers|July 14, 2023
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient CohortAhmed Bouras, Souhir Guidara, Mélanie Leone, et al.
The Journal of Clinical Endocrinology and Metabolism|March 19, 2009
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypesJérôme Bertherat, Anélia Horvath, Lionel Groussin, et al.
Orphanet Journal of Rare Diseases|December 5, 2016
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohortYves Pacheco, Alain Calender, Dominique Israël-Biet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
The European Respiratory Journal|April 27, 2019
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosisAlain Calender, Clarice X Lim, Thomas Weichhart, et al.
European Journal of Medical Genetics|December 16, 2014
Molecular characterization of a cohort of 73 patients with infantile spasms syndromeNadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, et al.
Pageof 8

Showing results (51-60 of 71) with videos related to

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Pageof 8
American Journal of Respiratory and Critical Care Medicine|February 14, 2024
Aberrant Lipid Metabolism in Macrophages Is Associated with Granuloma Formation in SarcoidosisClarice X Lim, Anna Redl, Lisa Kleissl, et al.
Human Mutation|April 2, 2010
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an updateAnélia Horvath, Jérôme Bertherat, Lionel Groussin, et al.
World Journal of Surgery|March 19, 2009
Thymic neuroendocrine tumors in multiple endocrine neoplasia type 1: a comparative study on 21 cases among a series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)Pierre Goudet, Arnaud Murat, Catherine Cardot-Bauters, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Cancers|July 14, 2023
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient CohortAhmed Bouras, Souhir Guidara, Mélanie Leone, et al.
The Journal of Clinical Endocrinology and Metabolism|March 19, 2009
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypesJérôme Bertherat, Anélia Horvath, Lionel Groussin, et al.
Orphanet Journal of Rare Diseases|December 5, 2016
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohortYves Pacheco, Alain Calender, Dominique Israël-Biet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
The European Respiratory Journal|April 27, 2019
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosisAlain Calender, Clarice X Lim, Thomas Weichhart, et al.
European Journal of Medical Genetics|December 16, 2014
Molecular characterization of a cohort of 73 patients with infantile spasms syndromeNadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, et al.
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