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Eric Clauser

Showing results (31-40 of 48) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk predictionNadim Hamzaoui, Flora Alarcon, Nicolas Leulliot, et al.
Endocrine-Related Cancer|February 6, 2020
Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradationIsadora Pontes Cavalcante, Anna Vaczlavik, Ludivine Drougat, et al.
European Journal of Endocrinology|December 19, 2013
Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomasBruno Ragazzon, Rossella Libé, Guillaume Assié, et al.
European Journal of Endocrinology|July 5, 2007
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomasLaure Cazabat, Rossella Libè, Karine Perlemoine, et al.
The Journal of Clinical Investigation|July 4, 2007
Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in miceSandrine Billet, Sabine Bardin, Sonia Verp, 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.
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.
Gene|July 31, 2012
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphismsIlhem Ben Charfeddine, Felix G Riepe, Eric Clauser, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2013
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidismLéopoldine Bricaire, Marie-Françoise Odou, Catherine Cardot-Bauters, et al.
Plos One|August 5, 2014
IGF2 promotes growth of adrenocortical carcinoma cells, but its overexpression does not modify phenotypic and molecular features of adrenocortical carcinomaMarine Guillaud-Bataille, Bruno Ragazzon, Aurélien de Reyniès, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk predictionNadim Hamzaoui, Flora Alarcon, Nicolas Leulliot, et al.
Endocrine-Related Cancer|February 6, 2020
Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradationIsadora Pontes Cavalcante, Anna Vaczlavik, Ludivine Drougat, et al.
European Journal of Endocrinology|December 19, 2013
Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomasBruno Ragazzon, Rossella Libé, Guillaume Assié, et al.
European Journal of Endocrinology|July 5, 2007
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomasLaure Cazabat, Rossella Libè, Karine Perlemoine, et al.
The Journal of Clinical Investigation|July 4, 2007
Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in miceSandrine Billet, Sabine Bardin, Sonia Verp, 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.
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.
Gene|July 31, 2012
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphismsIlhem Ben Charfeddine, Felix G Riepe, Eric Clauser, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2013
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidismLéopoldine Bricaire, Marie-Françoise Odou, Catherine Cardot-Bauters, et al.
Plos One|August 5, 2014
IGF2 promotes growth of adrenocortical carcinoma cells, but its overexpression does not modify phenotypic and molecular features of adrenocortical carcinomaMarine Guillaud-Bataille, Bruno Ragazzon, Aurélien de Reyniès, et al.
Pageof 5