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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.Human Mutation|December 30, 2014
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratioWenjuan Zhu, David N Cooper, Qiang Zhao, et al.Human Genomics|May 6, 2017
In silico prioritization and further functional characterization of SPINK1 intronic variantsWen-Bin Zou, Hao Wu, Arnaud Boulling, et al.Frontiers in Genetics|October 2, 2019
Compound Heterozygosity for Novel Truncating Variants in the <i>LMOD3</i> Gene as the Cause of Polyhydramnios in Two Successive FetusesYe Wang, Caixia Zhu, Liu Du, et al.Lipids in Health and Disease|August 7, 2023
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein functionYuepeng Hu, Guofu Zhang, Qi Yang, et al.Human Mutation|March 17, 2004
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanismsMarie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, 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.Yi Chuan = Hereditas|July 1, 2018
[Recommendations to define generation and apply generation symbols in plant genetics]Jian Min ChenEuropean Journal of Human Genetics : EJHG|May 26, 2011
Assessing the pathological relevance of SPINK1 promoter variantsArnaud Boulling, Heiko Witt, Giriraj Ratan Chandak, et al.Pageof 56