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Michel Guipponi

Showing results (1-10 of 83) with videos related to

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Human Genetics|June 20, 2002
Identification of additional transcripts in the Williams-Beuren syndrome critical regionGiuseppe Merla, Catherine Ucla, Michel Guipponi, et al.
Frontiers in Bioscience : a Journal and Virtual Library|November 6, 2007
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessMichel Guipponi, Stylianos Emmanuel Antonarakis, Hamish Steele Scott
Neuroreport|August 5, 2010
Thyroxine treatments do not correct inner ear defects in tmprss1 mutant miceSyazana Hanifa, Hamish S Scott, Pauline Crewther, et al.
Retrovirology|February 19, 2013
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasmAlberto De Iaco, Federico Santoni, Anne Vannier, et al.
Epilepsy Research|April 10, 2010
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian familySamia Layouni, Annick Salzmann, Michel Guipponi, et al.
Annals of Clinical and Translational Neurology|December 18, 2019
MCF2 is linked to a complex perisylvian syndrome and affects cortical laminationAude Molinard-Chenu, Joël Fluss, Sacha Laurent, et al.
Revue Medicale Suisse|July 2, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives]Henri Margot, Michel Guipponi, Thomas Rio Frio, et al.
European Journal of Medical Genetics|December 7, 2024
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing lossSacha Laurent, Anne Vannier, Corinne Gehrig, et al.
Genomics|July 6, 2004
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentOlivier Menzel, Tibor Vellai, Krisztina Takacs-Vellai, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
Pageof 9

Showing results (1-10 of 83) with videos related to

Sort By:
Pageof 9
Human Genetics|June 20, 2002
Identification of additional transcripts in the Williams-Beuren syndrome critical regionGiuseppe Merla, Catherine Ucla, Michel Guipponi, et al.
Frontiers in Bioscience : a Journal and Virtual Library|November 6, 2007
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessMichel Guipponi, Stylianos Emmanuel Antonarakis, Hamish Steele Scott
Neuroreport|August 5, 2010
Thyroxine treatments do not correct inner ear defects in tmprss1 mutant miceSyazana Hanifa, Hamish S Scott, Pauline Crewther, et al.
Retrovirology|February 19, 2013
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasmAlberto De Iaco, Federico Santoni, Anne Vannier, et al.
Epilepsy Research|April 10, 2010
Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian familySamia Layouni, Annick Salzmann, Michel Guipponi, et al.
Annals of Clinical and Translational Neurology|December 18, 2019
MCF2 is linked to a complex perisylvian syndrome and affects cortical laminationAude Molinard-Chenu, Joël Fluss, Sacha Laurent, et al.
Revue Medicale Suisse|July 2, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives]Henri Margot, Michel Guipponi, Thomas Rio Frio, et al.
European Journal of Medical Genetics|December 7, 2024
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing lossSacha Laurent, Anne Vannier, Corinne Gehrig, et al.
Genomics|July 6, 2004
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentOlivier Menzel, Tibor Vellai, Krisztina Takacs-Vellai, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
Pageof 9