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Michel Guipponi

Showing results (51-60 of 83) with videos related to

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The Journal of Biological Chemistry|April 2, 2011
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingLydie Fasquelle, Hamish S Scott, Marc Lenoir, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Human Molecular Genetics|February 22, 2015
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Elisa Giorgio, Daniel Robyr, Malte Spielmann, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Genomics|May 31, 2002
Nineteen additional unpredicted transcripts from human chromosome 21Alexandre Reymond, Anamaria A Camargo, Samuel Deutsch, et al.
Clinical Genetics|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisCaterina Marconi, Laure Lemmens, Frédéric Masclaux, et al.
Nature Genetics|December 27, 2011
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaSergey I Nikolaev, Donata Rimoldi, Christian Iseli, et al.
Human Molecular Genetics|October 24, 2002
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitroMichel Guipponi, Grégoire Vuagniaux, Marie Wattenhofer, et al.
Plos One|November 25, 2014
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesMichel Guipponi, Federico A Santoni, Vincent Setola, et al.
Elife|June 12, 2013
Passive and active DNA methylation and the interplay with genetic variation in gene regulationMaria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, et al.
Pageof 9

Showing results (51-60 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Biological Chemistry|April 2, 2011
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingLydie Fasquelle, Hamish S Scott, Marc Lenoir, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Human Molecular Genetics|February 22, 2015
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Elisa Giorgio, Daniel Robyr, Malte Spielmann, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Genomics|May 31, 2002
Nineteen additional unpredicted transcripts from human chromosome 21Alexandre Reymond, Anamaria A Camargo, Samuel Deutsch, et al.
Clinical Genetics|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisCaterina Marconi, Laure Lemmens, Frédéric Masclaux, et al.
Nature Genetics|December 27, 2011
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaSergey I Nikolaev, Donata Rimoldi, Christian Iseli, et al.
Human Molecular Genetics|October 24, 2002
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitroMichel Guipponi, Grégoire Vuagniaux, Marie Wattenhofer, et al.
Plos One|November 25, 2014
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesMichel Guipponi, Federico A Santoni, Vincent Setola, et al.
Elife|June 12, 2013
Passive and active DNA methylation and the interplay with genetic variation in gene regulationMaria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, et al.
Pageof 9