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Alexandre Reymond

Showing results (51-60 of 169) with videos related to

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American Journal of Human Genetics|March 3, 2022
The individual and global impact of copy-number variants on complex human traitsChiara Auwerx, Maarja Lepamets, Marie C Sadler, et al.
American Journal of Medical Genetics. Part A|December 14, 2019
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian familiesEgle Preiksaitiene, Norine Voisin, Lucie Gueneau, et al.
Human Mutation|February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac diseaseAli Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.
Molecular Biology and Evolution|May 10, 2011
The origins, evolution, and functional potential of alternative splicing in vertebratesJonathan M Mudge, Adam Frankish, Julio Fernandez-Banet, et al.
European Journal of Human Genetics : EJHG|July 2, 2009
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patientGiovanni Battista Ferrero, Cédric Howald, Lucia Micale, et al.
Plos One|November 3, 2012
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafishLucia Micale, Maria Nicla Loviglio, Marta Manzoni, et al.
Cell|June 12, 2012
Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signalingBing Hu, Einar Castillo, Louise Harewood, et al.
Plos Biology|December 3, 2010
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsGuénola Ricard, Jessica Molina, Jacqueline Chrast, et al.
Personalized Medicine|May 12, 2018
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participantsLiis Leitsalu, Helene Alavere, Sébastien Jacquemont, et al.
Human Mutation|May 10, 2005
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroMarie Wattenhofer, Alexandre Reymond, Véronique Falciola, et al.
Pageof 17

Showing results (51-60 of 169) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|March 3, 2022
The individual and global impact of copy-number variants on complex human traitsChiara Auwerx, Maarja Lepamets, Marie C Sadler, et al.
American Journal of Medical Genetics. Part A|December 14, 2019
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian familiesEgle Preiksaitiene, Norine Voisin, Lucie Gueneau, et al.
Human Mutation|February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac diseaseAli Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.
Molecular Biology and Evolution|May 10, 2011
The origins, evolution, and functional potential of alternative splicing in vertebratesJonathan M Mudge, Adam Frankish, Julio Fernandez-Banet, et al.
European Journal of Human Genetics : EJHG|July 2, 2009
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patientGiovanni Battista Ferrero, Cédric Howald, Lucia Micale, et al.
Plos One|November 3, 2012
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafishLucia Micale, Maria Nicla Loviglio, Marta Manzoni, et al.
Cell|June 12, 2012
Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signalingBing Hu, Einar Castillo, Louise Harewood, et al.
Plos Biology|December 3, 2010
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsGuénola Ricard, Jessica Molina, Jacqueline Chrast, et al.
Personalized Medicine|May 12, 2018
Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participantsLiis Leitsalu, Helene Alavere, Sébastien Jacquemont, et al.
Human Mutation|May 10, 2005
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroMarie Wattenhofer, Alexandre Reymond, Véronique Falciola, et al.
Pageof 17