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Emmanuelle Masson

Showing results (31-40 of 77) with videos related to

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Gut|February 18, 2016
Digging deeper into the intronic sequences of the SPINK1 geneWen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, et al.
Gut|September 28, 2017
The <i>CTRB1-CTRB2</i> risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixationXin-Ying Tang, Wen-Bin Zou, Emmanuelle Masson, et al.
Human Molecular Genetics|July 9, 2009
Elucidation of the complex structure and origin of the human trypsinogen locus triplicationAngélique Chauvin, Jian-Min Chen, Sylvia Quemener, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 29, 2007
Detection of two Alu insertions in the CFTR geneJian-Min Chen, Emmanuelle Masson, Milan Macek, et al.
Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Pancreas|March 26, 2010
Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitisEmmanuelle Masson, Sumit Paliwal, Seema Bhaskar, et al.
Lipids in Health and Disease|August 11, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to dateGuofu Zhang, Yuepeng Hu, Qi Yang, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|December 8, 2007
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Giriraj R Chandak, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
Assessing the pathological relevance of SPINK1 promoter variantsArnaud Boulling, Heiko Witt, Giriraj Ratan Chandak, et al.
Transfusion|August 7, 2020
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopeniaPaul Guéguen, Arnaud Dupuis, Jean-Yves Py, et al.
Pageof 8

Showing results (31-40 of 77) with videos related to

Sort By:
Pageof 8
Gut|February 18, 2016
Digging deeper into the intronic sequences of the SPINK1 geneWen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, et al.
Gut|September 28, 2017
The <i>CTRB1-CTRB2</i> risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixationXin-Ying Tang, Wen-Bin Zou, Emmanuelle Masson, et al.
Human Molecular Genetics|July 9, 2009
Elucidation of the complex structure and origin of the human trypsinogen locus triplicationAngélique Chauvin, Jian-Min Chen, Sylvia Quemener, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 29, 2007
Detection of two Alu insertions in the CFTR geneJian-Min Chen, Emmanuelle Masson, Milan Macek, et al.
Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Pancreas|March 26, 2010
Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitisEmmanuelle Masson, Sumit Paliwal, Seema Bhaskar, et al.
Lipids in Health and Disease|August 11, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to dateGuofu Zhang, Yuepeng Hu, Qi Yang, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|December 8, 2007
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitisEmmanuelle Masson, Cédric Le Maréchal, Giriraj R Chandak, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
Assessing the pathological relevance of SPINK1 promoter variantsArnaud Boulling, Heiko Witt, Giriraj Ratan Chandak, et al.
Transfusion|August 7, 2020
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopeniaPaul Guéguen, Arnaud Dupuis, Jean-Yves Py, et al.
Pageof 8