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Human Molecular Genetics
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May 26, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling
Abraham Shim, Xiaohan Luan, Wen Zhou, et al.
Journal of Clinical Immunology
|
January 17, 2023
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
Clara Ladoux, Marlène Pasquet, Yanick J Crow, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
New subtype of familial intracranial calcification in a mother and two children
Mahmoud F Elsaid, Yanick J Crow, John H Livingston, et al.
Developmental Medicine and Child Neurology
|
November 6, 2012
Recognizable phenotypes associated with intracranial calcification
John H Livingston, Stavros Stivaros, Marjo S van der Knaap, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Jane C Ravenscroft, Mohnish Suri, Gillian I Rice, et al.
Joint Bone Spine
|
January 23, 2023
VEXAS syndrome: Expanding the clinical and molecular spectrum
Marie Robert, Marie Berleur, Augustin Gaudemer, et al.
Journal of Cutaneous Pathology
|
April 22, 2008
Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus
Athanassios Kolivras, Alec Aeby, Yanick J Crow, et al.
Annals of the Rheumatic Diseases
|
October 14, 2016
JAK inhibition in STING-associated interferonopathy
Mathieu P Rodero, Marie-Louise Frémond, Gillian I Rice, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 28, 2010
Infantile neurological Degos disease
Tong Hong Yeo, Grace Vassallo, Mary Judge, et al.
International Journal of Molecular Sciences
|
March 13, 2024
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, et al.
Page
of 24
Search research articles
Search
Showing results (51-60 of 233) with videos related to
Sort By:
Page
of 24
Human Molecular Genetics
|
May 26, 2024
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling
Abraham Shim, Xiaohan Luan, Wen Zhou, et al.
Journal of Clinical Immunology
|
January 17, 2023
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
Clara Ladoux, Marlène Pasquet, Yanick J Crow, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
New subtype of familial intracranial calcification in a mother and two children
Mahmoud F Elsaid, Yanick J Crow, John H Livingston, et al.
Developmental Medicine and Child Neurology
|
November 6, 2012
Recognizable phenotypes associated with intracranial calcification
John H Livingston, Stavros Stivaros, Marjo S van der Knaap, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Jane C Ravenscroft, Mohnish Suri, Gillian I Rice, et al.
Joint Bone Spine
|
January 23, 2023
VEXAS syndrome: Expanding the clinical and molecular spectrum
Marie Robert, Marie Berleur, Augustin Gaudemer, et al.
Journal of Cutaneous Pathology
|
April 22, 2008
Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus
Athanassios Kolivras, Alec Aeby, Yanick J Crow, et al.
Annals of the Rheumatic Diseases
|
October 14, 2016
JAK inhibition in STING-associated interferonopathy
Mathieu P Rodero, Marie-Louise Frémond, Gillian I Rice, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 28, 2010
Infantile neurological Degos disease
Tong Hong Yeo, Grace Vassallo, Mary Judge, et al.
International Journal of Molecular Sciences
|
March 13, 2024
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, et al.
Page
of 24