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Bruno Reversade

Showing results (51-60 of 134) with videos related to

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American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
Nature Communications|November 28, 2018
Structural basis of RIP2 activation and signalingQin Gong, Ziqi Long, Franklin L Zhong, et al.
The Journal of Experimental Medicine|August 27, 2020
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signalingCarine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, et al.
Journal of Human Genetics|July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 proteinBoudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.
Journal of Hepatology|November 15, 2019
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesisZhaobing Ding, Russell E Ericksen, Nathalie Escande-Beillard, et al.
International Journal of Molecular Sciences|March 16, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma OsteoplasticaAriana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, et al.
Frontiers in Immunology|March 11, 2022
C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the SkinTeruki Dainichi, Yuri Nakano, Hiromi Doi, et al.
Bone|October 14, 2018
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola diseaseMohammad Shboul, Paul Roschger, Rudolf Ganger, et al.
Journal of Medicinal Chemistry|March 18, 2016
Discovery and Structure-Activity Relationship of a Bioactive Fragment of ELABELA that Modulates Vascular and Cardiac FunctionsAlexandre Murza, Xavier Sainsily, David Coquerel, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
Pageof 14

Showing results (51-60 of 134) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
Nature Communications|November 28, 2018
Structural basis of RIP2 activation and signalingQin Gong, Ziqi Long, Franklin L Zhong, et al.
The Journal of Experimental Medicine|August 27, 2020
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signalingCarine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, et al.
Journal of Human Genetics|July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 proteinBoudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.
Journal of Hepatology|November 15, 2019
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesisZhaobing Ding, Russell E Ericksen, Nathalie Escande-Beillard, et al.
International Journal of Molecular Sciences|March 16, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma OsteoplasticaAriana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, et al.
Frontiers in Immunology|March 11, 2022
C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the SkinTeruki Dainichi, Yuri Nakano, Hiromi Doi, et al.
Bone|October 14, 2018
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola diseaseMohammad Shboul, Paul Roschger, Rudolf Ganger, et al.
Journal of Medicinal Chemistry|March 18, 2016
Discovery and Structure-Activity Relationship of a Bioactive Fragment of ELABELA that Modulates Vascular and Cardiac FunctionsAlexandre Murza, Xavier Sainsily, David Coquerel, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
Pageof 14