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Showing results (851-860 of 884) with videos related to

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European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.
The Lancet. Rheumatology|January 24, 2024
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohortsAlexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, et al.
The Journal of Allergy and Clinical Immunology|April 6, 2015
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunityAnne-Laure Mathieu, Estelle Verronese, Gillian I Rice, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Nature|October 14, 2014
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammationXianqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 20, 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 PatientsMarie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
American Journal of Human Genetics|January 3, 2009
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2Derek E Neilson, Mark D Adams, Caitlin M D Orr, et al.
The Journal of Experimental Medicine|July 9, 2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtypeFlorence Assan, Margot Tragin, Sahiti Marella, et al.
Pageof 89

Showing results (851-860 of 884) with videos related to

Sort By:
Pageof 89
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Nature Genetics|January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureTracy A Briggs, Gillian I Rice, Sarah Daly, et al.
The Lancet. Rheumatology|January 24, 2024
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohortsAlexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, et al.
The Journal of Allergy and Clinical Immunology|April 6, 2015
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunityAnne-Laure Mathieu, Estelle Verronese, Gillian I Rice, et al.
Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.
Nature|October 14, 2014
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammationXianqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard, et al.
The Journal of Allergy and Clinical Immunology. in Practice|November 20, 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 PatientsMarie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
American Journal of Human Genetics|January 3, 2009
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2Derek E Neilson, Mark D Adams, Caitlin M D Orr, et al.
The Journal of Experimental Medicine|July 9, 2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtypeFlorence Assan, Margot Tragin, Sahiti Marella, et al.
Pageof 89