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Xavier Estivill

Showing results (41-50 of 239) with videos related to

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Molecular Genetics and Metabolism|November 16, 2004
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3Yelena Bykhovskaya, Emebet Mengesha, Dai Wang, et al.
Human Mutation|November 14, 2007
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutationsEster Ballana, Nancy Govea, Rafael de Cid, et al.
American Journal of Human Genetics|October 23, 2008
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndromeJon Ortiz-Abalia, Ignasi Sahún, Xavier Altafaj, et al.
BMC Genetics|July 9, 2013
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like proteinJohanna Aigner, Sergi Villatoro, Raquel Rabionet, et al.
Biological Psychiatry|January 16, 2007
Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophreniaMònica Gratacòs, Juan R González, Josep M Mercader, et al.
Human Molecular Genetics|August 8, 2002
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genomeXavier Estivill, Joseph Cheung, Miguel Angel Pujana, et al.
Molecular Genetics and Metabolism|April 28, 2004
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutationYelena Bykhovskaya, Emebet Mengesha, Dai Wang, et al.
Neuroscience Letters|July 8, 2008
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5Ester Ballana, Jing Wang, Frédéric Venail, et al.
Biochemical and Biophysical Research Communications|February 7, 2006
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairmentEster Ballana, Estela Morales, Raquel Rabionet, et al.
Molecular Biology and Evolution|December 10, 2008
Origin of primate orphan genes: a comparative genomics approachMacarena Toll-Riera, Nina Bosch, Nicolás Bellora, et al.
Pageof 24

Showing results (41-50 of 239) with videos related to

Sort By:
Pageof 24
Molecular Genetics and Metabolism|November 16, 2004
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3Yelena Bykhovskaya, Emebet Mengesha, Dai Wang, et al.
Human Mutation|November 14, 2007
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutationsEster Ballana, Nancy Govea, Rafael de Cid, et al.
American Journal of Human Genetics|October 23, 2008
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndromeJon Ortiz-Abalia, Ignasi Sahún, Xavier Altafaj, et al.
BMC Genetics|July 9, 2013
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like proteinJohanna Aigner, Sergi Villatoro, Raquel Rabionet, et al.
Biological Psychiatry|January 16, 2007
Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophreniaMònica Gratacòs, Juan R González, Josep M Mercader, et al.
Human Molecular Genetics|August 8, 2002
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genomeXavier Estivill, Joseph Cheung, Miguel Angel Pujana, et al.
Molecular Genetics and Metabolism|April 28, 2004
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutationYelena Bykhovskaya, Emebet Mengesha, Dai Wang, et al.
Neuroscience Letters|July 8, 2008
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5Ester Ballana, Jing Wang, Frédéric Venail, et al.
Biochemical and Biophysical Research Communications|February 7, 2006
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairmentEster Ballana, Estela Morales, Raquel Rabionet, et al.
Molecular Biology and Evolution|December 10, 2008
Origin of primate orphan genes: a comparative genomics approachMacarena Toll-Riera, Nina Bosch, Nicolás Bellora, et al.
Pageof 24