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Bruno Reversade

Showing results (101-110 of 134) with videos related to

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Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Science Immunology|September 16, 2022
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingCassandra R Harapas, Kim S Robinson, Kenneth Lay, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Development (Cambridge, England)|October 9, 2020
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in <i>RFX6</i>Jamie Trott, Yunus Alpagu, Ee Kim Tan, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Cell|September 24, 2016
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome ActivationFranklin L Zhong, Ons Mamaï, Lorenzo Sborgi, et al.
Nature Communications|September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in diseaseAndres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Molecular Cell|May 20, 2022
Human NLRP1 is a sensor of pathogenic coronavirus 3CL proteases in lung epithelial cellsRémi Planès, Miriam Pinilla, Karin Santoni, et al.
Nature Genetics|October 16, 2012
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratodermaElizabeth Pohler, Ons Mamai, Jennifer Hirst, et al.
American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Pageof 14

Showing results (101-110 of 134) with videos related to

Sort By:
Pageof 14
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Science Immunology|September 16, 2022
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingCassandra R Harapas, Kim S Robinson, Kenneth Lay, et al.
The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.
Development (Cambridge, England)|October 9, 2020
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in <i>RFX6</i>Jamie Trott, Yunus Alpagu, Ee Kim Tan, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Cell|September 24, 2016
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome ActivationFranklin L Zhong, Ons Mamaï, Lorenzo Sborgi, et al.
Nature Communications|September 25, 2023
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in diseaseAndres Tapia Del Fierro, Bianca den Hamer, Natalia Benetti, et al.
Molecular Cell|May 20, 2022
Human NLRP1 is a sensor of pathogenic coronavirus 3CL proteases in lung epithelial cellsRémi Planès, Miriam Pinilla, Karin Santoni, et al.
Nature Genetics|October 16, 2012
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratodermaElizabeth Pohler, Ons Mamai, Jennifer Hirst, et al.
American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.
Pageof 14