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Bruno Reversade

Showing results (91-100 of 134) with videos related to

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American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 6, 2019
Homozygous <i>NLRP1</i> gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosisScott B Drutman, Filomeen Haerynck, Franklin L Zhong, et al.
Nature Communications|October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexLauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
Nature|May 18, 2018
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.
Nature|July 7, 2018
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.
Nature Communications|March 13, 2020
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assemblyShan Zhang, Boris Reljić, Chao Liang, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Nature Communications|September 12, 2020
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.
Nature Communications|October 20, 2020
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
Pageof 14

Showing results (91-100 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 6, 2019
Homozygous <i>NLRP1</i> gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosisScott B Drutman, Filomeen Haerynck, Franklin L Zhong, et al.
Nature Communications|October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexLauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.
Nature|May 18, 2018
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.
Nature|July 7, 2018
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6Emmanuelle Szenker-Ravi, Umut Altunoglu, Marc Leushacke, et al.
Nature Communications|March 13, 2020
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assemblyShan Zhang, Boris Reljić, Chao Liang, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Nature Communications|September 12, 2020
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.
Nature Communications|October 20, 2020
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.
Nucleic Acids Research|January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatelliteCamille Dion, Stéphane Roche, Camille Laberthonnière, et al.
Pageof 14