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Jean-Hubert Caberg

Showing results (11-20 of 41) with videos related to

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Scientific Reports|February 5, 2021
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapyPablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, et al.
BMC Medical Genetics|July 14, 2014
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomaliesAnnette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, et al.
Journal of Tropical Pediatrics|November 12, 2013
Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patientsAnnette Uwineza, Janvier Hitayezu, Seraphine Murorunkwere, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 2, 2007
Defensins induce the recruitment of dendritic cells in cervical human papillomavirus-associated (pre)neoplastic lesions formed in vitro and transplanted in vivoPascale Hubert, Ludivine Herman, Catherine Maillard, et al.
Pituitary|June 12, 2016
Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screeningRuth Mangupli, Liliya Rostomyan, Emilie Castermans, et al.
Genetic Epidemiology|November 19, 2016
Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sampleStephane Wenric, Tiberio Sticca, Jean-Hubert Caberg, et al.
Genes|May 4, 2026
The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental DelayNorbert Dukuze, Janvier Hitayezu, Jeanne Primitive Uyisenga, et al.
European Journal of Medical Genetics|June 18, 2019
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory reportAnnette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1Imen Dorboz, Marie Coutelier, Anne T Bertrand, et al.
International Journal of Molecular Sciences|February 26, 2022
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic EncephalopathyFrançois Boemer, Claire Josse, Géraldine Luis, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Scientific Reports|February 5, 2021
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapyPablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, et al.
BMC Medical Genetics|July 14, 2014
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomaliesAnnette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, et al.
Journal of Tropical Pediatrics|November 12, 2013
Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patientsAnnette Uwineza, Janvier Hitayezu, Seraphine Murorunkwere, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 2, 2007
Defensins induce the recruitment of dendritic cells in cervical human papillomavirus-associated (pre)neoplastic lesions formed in vitro and transplanted in vivoPascale Hubert, Ludivine Herman, Catherine Maillard, et al.
Pituitary|June 12, 2016
Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screeningRuth Mangupli, Liliya Rostomyan, Emilie Castermans, et al.
Genetic Epidemiology|November 19, 2016
Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sampleStephane Wenric, Tiberio Sticca, Jean-Hubert Caberg, et al.
Genes|May 4, 2026
The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental DelayNorbert Dukuze, Janvier Hitayezu, Jeanne Primitive Uyisenga, et al.
European Journal of Medical Genetics|June 18, 2019
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory reportAnnette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1Imen Dorboz, Marie Coutelier, Anne T Bertrand, et al.
International Journal of Molecular Sciences|February 26, 2022
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic EncephalopathyFrançois Boemer, Claire Josse, Géraldine Luis, et al.
Pageof 5