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Yanick J Crow

Showing results (161-170 of 234) with videos related to

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Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
Journal of Clinical Immunology|December 12, 2017
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityCapucine Picard, H Bobby Gaspar, Waleed Al-Herz, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.
Journal of Clinical Immunology|February 7, 2024
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory DiseaseClémence David, Mihaly Badonyi, Robin Kechiche, et al.
Journal of Clinical Immunology|December 12, 2017
The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesAziz Bousfiha, Leïla Jeddane, Capucine Picard, et al.
The Journal of Experimental Medicine|March 8, 2022
A partial form of inherited human USP18 deficiency underlies infection and inflammationMarta Martin-Fernandez, Sofija Buta, Tom Le Voyer, et al.
Journal of Clinical Immunology|June 7, 2022
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signalingMaud Tusseau, Ema Lovšin, Charlotte Samaille, et al.
Pageof 24

Showing results (161-170 of 234) with videos related to

Sort By:
Pageof 24
Arthritis & Rheumatology (Hoboken, N.J.)|June 13, 2017
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's ArthropathyLuciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
Journal of Clinical Immunology|December 12, 2017
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityCapucine Picard, H Bobby Gaspar, Waleed Al-Herz, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Clinical Immunology|March 23, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ InvolvementLeslie Naesens, Josephine Nemegeer, Filip Roelens, et al.
Journal of Clinical Immunology|February 7, 2024
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory DiseaseClémence David, Mihaly Badonyi, Robin Kechiche, et al.
Journal of Clinical Immunology|December 12, 2017
The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesAziz Bousfiha, Leïla Jeddane, Capucine Picard, et al.
The Journal of Experimental Medicine|March 8, 2022
A partial form of inherited human USP18 deficiency underlies infection and inflammationMarta Martin-Fernandez, Sofija Buta, Tom Le Voyer, et al.
Journal of Clinical Immunology|June 7, 2022
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signalingMaud Tusseau, Ema Lovšin, Charlotte Samaille, et al.
Pageof 24