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Cell Stem Cell
|
August 15, 2017
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation
Charles A Thomas, Leon Tejwani, Cleber A Trujillo, et al.
The Journal of Allergy and Clinical Immunology
|
August 18, 2016
Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood
Glynis Frans, Leen Moens, Heidi Schaballie, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
Emma M Jenkinson, Helen Kingston, Jill Urquhart, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
September 6, 2019
Circulating Interferon-α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al
Isabelle Melki, Hervé Devilliers, Cyril Gitiaux, et al.
Annals of the Rheumatic Diseases
|
October 5, 2018
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency
Coralie Briand, Marie-Louise Frémond, Didier Bessis, et al.
Developmental Medicine and Child Neurology
|
June 22, 2021
Opsoclonus-myoclonus in Aicardi-Goutières syndrome
Salam Alburaiky, Russell C Dale, Yanick J Crow, et al.
Clinical Genetics
|
April 26, 2020
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature
Chiara De Luca, Yanick J Crow, Mathieu Rodero, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
February 13, 2015
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome
Paul R Kasher, Emma M Jenkinson, Valérie Briolat, et al.
European Journal of Medical Genetics
|
July 13, 2010
Expanding the clinical spectrum of SLC29A3 gene defects
Ronen Spiegel, Simon T Cliffe, Michael F Buckley, et al.
American Journal of Medical Genetics. Part A
|
August 28, 2010
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome
Charlotte A Haaxma, Yanick J Crow, Maurice A M van Steensel, et al.
Page
of 24
Search research articles
Search
Showing results (101-110 of 234) with videos related to
Sort By:
Page
of 24
Cell Stem Cell
|
August 15, 2017
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation
Charles A Thomas, Leon Tejwani, Cleber A Trujillo, et al.
The Journal of Allergy and Clinical Immunology
|
August 18, 2016
Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood
Glynis Frans, Leen Moens, Heidi Schaballie, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
Emma M Jenkinson, Helen Kingston, Jill Urquhart, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
September 6, 2019
Circulating Interferon-α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al
Isabelle Melki, Hervé Devilliers, Cyril Gitiaux, et al.
Annals of the Rheumatic Diseases
|
October 5, 2018
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency
Coralie Briand, Marie-Louise Frémond, Didier Bessis, et al.
Developmental Medicine and Child Neurology
|
June 22, 2021
Opsoclonus-myoclonus in Aicardi-Goutières syndrome
Salam Alburaiky, Russell C Dale, Yanick J Crow, et al.
Clinical Genetics
|
April 26, 2020
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature
Chiara De Luca, Yanick J Crow, Mathieu Rodero, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
February 13, 2015
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome
Paul R Kasher, Emma M Jenkinson, Valérie Briolat, et al.
European Journal of Medical Genetics
|
July 13, 2010
Expanding the clinical spectrum of SLC29A3 gene defects
Ronen Spiegel, Simon T Cliffe, Michael F Buckley, et al.
American Journal of Medical Genetics. Part A
|
August 28, 2010
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome
Charlotte A Haaxma, Yanick J Crow, Maurice A M van Steensel, et al.
Page
of 24