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Raphaela Goldbach-Mansky

Showing results (81-90 of 190) with videos related to

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The Journal of Allergy and Clinical Immunology|January 22, 2019
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4Adriana A de Jesus, Anja Brehm, Rachel VanTries, et al.
Stem Cell Research|November 18, 2022
Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING geneAtul Mehta, Quan Yu, Yangtengyu Liu, et al.
The Journal of Clinical Investigation|November 14, 2017
TNF regulates transcription of NLRP3 inflammasome components and inflammatory molecules in cryopyrinopathiesMatthew D McGeough, Alexander Wree, Maria E Inzaugarat, et al.
Stem Cell Research|August 6, 2024
Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 geneIsabella Varea, Benjamin Joseph, Kevin Emmerich, et al.
Pediatric Rheumatology Online Journal|July 16, 2020
Proceedings from the 2<sup>nd</sup> Next Gen Therapies for Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome symposium held on October 3-4, 2019Scott W Canna, Grant S Schulert, Adriana de Jesus, et al.
JCI Insight|June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathiesLaura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
International Journal of Dermatology|December 27, 2025
Neonatal-Onset CANDLE/PRAAS due to PSMB8 p.Gly209Arg: Clinical Course and Baricitinib ResponseJorge López-Cano, María Teresa Monserrat-García, Raphaela Goldbach-Mansky, et al.
Annals of the Rheumatic Diseases|August 28, 2016
Familial chilblain lupus due to a gain-of-function mutation in STINGNadja König, Christoph Fiehn, Christine Wolf, et al.
Plos One|November 5, 2014
CARD14 expression in dermal endothelial cells in psoriasisJamie L Harden, Steven M Lewis, Katherine C Pierson, et al.
Journal of Clinical Immunology|December 22, 2018
DDX58 and Classic Singleton-Merten SyndromeCarlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Pageof 19

Showing results (81-90 of 190) with videos related to

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Pageof 19
The Journal of Allergy and Clinical Immunology|January 22, 2019
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4Adriana A de Jesus, Anja Brehm, Rachel VanTries, et al.
Stem Cell Research|November 18, 2022
Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING geneAtul Mehta, Quan Yu, Yangtengyu Liu, et al.
The Journal of Clinical Investigation|November 14, 2017
TNF regulates transcription of NLRP3 inflammasome components and inflammatory molecules in cryopyrinopathiesMatthew D McGeough, Alexander Wree, Maria E Inzaugarat, et al.
Stem Cell Research|August 6, 2024
Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 geneIsabella Varea, Benjamin Joseph, Kevin Emmerich, et al.
Pediatric Rheumatology Online Journal|July 16, 2020
Proceedings from the 2<sup>nd</sup> Next Gen Therapies for Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome symposium held on October 3-4, 2019Scott W Canna, Grant S Schulert, Adriana de Jesus, et al.
JCI Insight|June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathiesLaura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
International Journal of Dermatology|December 27, 2025
Neonatal-Onset CANDLE/PRAAS due to PSMB8 p.Gly209Arg: Clinical Course and Baricitinib ResponseJorge López-Cano, María Teresa Monserrat-García, Raphaela Goldbach-Mansky, et al.
Annals of the Rheumatic Diseases|August 28, 2016
Familial chilblain lupus due to a gain-of-function mutation in STINGNadja König, Christoph Fiehn, Christine Wolf, et al.
Plos One|November 5, 2014
CARD14 expression in dermal endothelial cells in psoriasisJamie L Harden, Steven M Lewis, Katherine C Pierson, et al.
Journal of Clinical Immunology|December 22, 2018
DDX58 and Classic Singleton-Merten SyndromeCarlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Pageof 19