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Claudia Gonzaga-Jauregui

Showing results (1-10 of 118) with videos related to

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Frontiers in Genetics|September 5, 2025
Editorial: Rare diseases research and diagnosis in low- and middle-income countriesClaudia Gonzaga-Jauregui, Ferran Casals, Vajira H W Dissanayake
Annual Review of Medicine|January 18, 2012
Human genome sequencing in health and diseaseClaudia Gonzaga-Jauregui, James R Lupski, Richard A Gibbs
Neurogenetics|June 10, 2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, et al.
Frontiers in Genetics|September 26, 2022
Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseasesZirui Dong, Dezso David, Claudia Gonzaga-Jauregui, et al.
Human Mutation|September 12, 2012
Inverted low-copy repeats and genome instability--a genome-wide analysisPiotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, et al.
Biorxiv : the Preprint Server for Biology|February 14, 2024
Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assembliesLuis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, et al.
HGG Advances|December 26, 2024
Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assembliesLuis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, et al.
European Journal of Medical Genetics|April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisCarlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Frontiers in Genetics|December 26, 2022
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin AmericaRoberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, et al.
American Journal of Human Genetics|December 2, 2022
Addressing the challenges of polygenic scores in human genetic researchJohn Novembre, Catherine Stein, Samira Asgari, et al.
Pageof 12

Showing results (1-10 of 118) with videos related to

Sort By:
Pageof 12
Frontiers in Genetics|September 5, 2025
Editorial: Rare diseases research and diagnosis in low- and middle-income countriesClaudia Gonzaga-Jauregui, Ferran Casals, Vajira H W Dissanayake
Annual Review of Medicine|January 18, 2012
Human genome sequencing in health and diseaseClaudia Gonzaga-Jauregui, James R Lupski, Richard A Gibbs
Neurogenetics|June 10, 2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, et al.
Frontiers in Genetics|September 26, 2022
Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseasesZirui Dong, Dezso David, Claudia Gonzaga-Jauregui, et al.
Human Mutation|September 12, 2012
Inverted low-copy repeats and genome instability--a genome-wide analysisPiotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, et al.
Biorxiv : the Preprint Server for Biology|February 14, 2024
Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assembliesLuis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, et al.
HGG Advances|December 26, 2024
Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assembliesLuis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, et al.
European Journal of Medical Genetics|April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisCarlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Frontiers in Genetics|December 26, 2022
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin AmericaRoberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, et al.
American Journal of Human Genetics|December 2, 2022
Addressing the challenges of polygenic scores in human genetic researchJohn Novembre, Catherine Stein, Samira Asgari, et al.
Pageof 12