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Alexandre Reymond

Showing results (111-120 of 169) with videos related to

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American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.
Genome Medicine|April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesFrancesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Genome Research|April 3, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Medicine|November 2, 2016
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsMaria Nicla Loviglio, Christine R Beck, Janson J White, et al.
Genome Research|June 15, 2007
Structured RNAs in the ENCODE selected regions of the human genomeStefan Washietl, Jakob S Pedersen, Jan O Korbel, et al.
Biological Psychiatry|May 21, 2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First StudySandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
Genome Research|June 15, 2007
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regionsFrance Denoeud, Philipp Kapranov, Catherine Ucla, et al.
Pageof 17

Showing results (111-120 of 169) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.
Genome Medicine|April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesFrancesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Genome Research|April 3, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Genome Medicine|November 2, 2016
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsMaria Nicla Loviglio, Christine R Beck, Janson J White, et al.
Genome Research|June 15, 2007
Structured RNAs in the ENCODE selected regions of the human genomeStefan Washietl, Jakob S Pedersen, Jan O Korbel, et al.
Biological Psychiatry|May 21, 2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First StudySandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
Genome Research|June 15, 2007
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regionsFrance Denoeud, Philipp Kapranov, Catherine Ucla, et al.
Pageof 17