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Emmanuelle Masson

Showing results (21-30 of 77) with videos related to

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Molecular Genetics and Metabolism|June 1, 2013
Characterization of two deletions of the CTRC locusEmmanuelle Masson, Pascal Hammel, Cécile Garceau, et al.
Nature Genetics|October 31, 2006
Hereditary pancreatitis caused by triplication of the trypsinogen locusCédric Le Maréchal, Emmanuelle Masson, Jian-Min Chen, et al.
Human Mutation|July 20, 2016
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic PancreatitisArnaud Boulling, Amandine Abrantes, Emmanuelle Masson, et al.
Human Genetics|January 28, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysisWen-Bin Zou, David N Cooper, Emmanuelle Masson, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Gut|December 31, 2024
Frequency of de novo <i>PRSS1</i> pathogenic variants in a French cohort of idiopathic pancreatitisEmmanuelle Masson, Anne-Laure Vedie, Frédérique Maire, et al.
Human Mutation|May 6, 2020
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicityJin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, et al.
Molecular Genetics and Metabolism|August 8, 2007
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Philippe Levy, et al.
Gut|January 1, 2016
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitisWen-Bin Zou, Arnaud Boulling, Emmanuelle Masson, et al.
Gut|March 14, 2019
Most unambiguous loss-of-function <i>CPA1</i> mutations are unlikely to predispose to chronic pancreatitisJin-Huan Lin, Arnaud Boulling, Emmanuelle Masson, et al.
Pageof 8

Showing results (21-30 of 77) with videos related to

Sort By:
Pageof 8
Molecular Genetics and Metabolism|June 1, 2013
Characterization of two deletions of the CTRC locusEmmanuelle Masson, Pascal Hammel, Cécile Garceau, et al.
Nature Genetics|October 31, 2006
Hereditary pancreatitis caused by triplication of the trypsinogen locusCédric Le Maréchal, Emmanuelle Masson, Jian-Min Chen, et al.
Human Mutation|July 20, 2016
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic PancreatitisArnaud Boulling, Amandine Abrantes, Emmanuelle Masson, et al.
Human Genetics|January 28, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysisWen-Bin Zou, David N Cooper, Emmanuelle Masson, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Gut|December 31, 2024
Frequency of de novo <i>PRSS1</i> pathogenic variants in a French cohort of idiopathic pancreatitisEmmanuelle Masson, Anne-Laure Vedie, Frédérique Maire, et al.
Human Mutation|May 6, 2020
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicityJin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, et al.
Molecular Genetics and Metabolism|August 8, 2007
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Philippe Levy, et al.
Gut|January 1, 2016
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitisWen-Bin Zou, Arnaud Boulling, Emmanuelle Masson, et al.
Gut|March 14, 2019
Most unambiguous loss-of-function <i>CPA1</i> mutations are unlikely to predispose to chronic pancreatitisJin-Huan Lin, Arnaud Boulling, Emmanuelle Masson, et al.
Pageof 8