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Emmanuelle Masson

Showing results (1-10 of 77) with videos related to

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Human Mutation|December 16, 2020
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiencyEmmanuelle Masson, Claude Férec, Jian-Min Chen
Pancreas|July 14, 2015
Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic PancreatitisEmmanuelle Masson, Jian-Min Chen, Claude Férec
Pancreas|July 14, 2015
Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular MechanismsEmmanuelle Masson, Jian-Min Chen, Claude Férec
Pancreas|July 31, 2008
Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Jian-Min Chen, et al.
Gut|June 12, 2017
<i>PRSS1</i> copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effectsEmmanuelle Masson, Jian-Min Chen, David N Cooper, et al.
Pancreas|February 21, 2012
Functional analysis of eight missense mutations in the SPINK1 geneArnaud Boulling, Steven Keiles, Emmanuelle Masson, et al.
Human Genetics|May 8, 2008
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutationEmmanuelle Masson, Cédric Le Maréchal, Richard Delcenserie, et al.
Human Genetics|January 4, 2008
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitisEmmanuelle Masson, Jian-Min Chen, Virginie Scotet, et al.
Gut|May 8, 2021
NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C>T) variant in chronic pancreatitisEmmanuelle Génin, David N Cooper, Emmanuelle Masson, et al.
Plos One|August 17, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsEmmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, et al.
Pageof 8

Showing results (1-10 of 77) with videos related to

Sort By:
Pageof 8
Human Mutation|December 16, 2020
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiencyEmmanuelle Masson, Claude Férec, Jian-Min Chen
Pancreas|July 14, 2015
Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic PancreatitisEmmanuelle Masson, Jian-Min Chen, Claude Férec
Pancreas|July 14, 2015
Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular MechanismsEmmanuelle Masson, Jian-Min Chen, Claude Férec
Pancreas|July 31, 2008
Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Jian-Min Chen, et al.
Gut|June 12, 2017
<i>PRSS1</i> copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effectsEmmanuelle Masson, Jian-Min Chen, David N Cooper, et al.
Pancreas|February 21, 2012
Functional analysis of eight missense mutations in the SPINK1 geneArnaud Boulling, Steven Keiles, Emmanuelle Masson, et al.
Human Genetics|May 8, 2008
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutationEmmanuelle Masson, Cédric Le Maréchal, Richard Delcenserie, et al.
Human Genetics|January 4, 2008
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitisEmmanuelle Masson, Jian-Min Chen, Virginie Scotet, et al.
Gut|May 8, 2021
NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C>T) variant in chronic pancreatitisEmmanuelle Génin, David N Cooper, Emmanuelle Masson, et al.
Plos One|August 17, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsEmmanuelle Masson, Jian-Min Chen, Marie-Pierre Audrézet, et al.
Pageof 8