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Bruno Reversade

Showing results (111-120 of 134) with videos related to

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American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Nature Communications|August 20, 2021
Somatic genetic rescue of a germline ribosome assembly defectShengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
Nature Genetics|December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial diseaseTom Le Voyer, Anna-Lena Neehus, Rui Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
The Journal of Clinical Investigation|August 5, 2020
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiencyEnrica Ek Tan, Richard A Hopkins, Chrissie K Lim, et al.
Nature Communications|September 29, 2021
Identical twins carry a persistent epigenetic signature of early genome programmingJenny van Dongen, Scott D Gordon, Allan F McRae, et al.
Pageof 14

Showing results (111-120 of 134) with videos related to

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Pageof 14
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Nature Communications|August 20, 2021
Somatic genetic rescue of a germline ribosome assembly defectShengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsAlinoë Lavillaureix, Paul Rollier, Artem Kim, et al.
Nature Genetics|December 14, 2021
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebratesEmmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial diseaseTom Le Voyer, Anna-Lena Neehus, Rui Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
The Journal of Clinical Investigation|August 5, 2020
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiencyEnrica Ek Tan, Richard A Hopkins, Chrissie K Lim, et al.
Nature Communications|September 29, 2021
Identical twins carry a persistent epigenetic signature of early genome programmingJenny van Dongen, Scott D Gordon, Allan F McRae, et al.
Pageof 14