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1 .
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study
저자
by
Yiming Luo
;
Marcela A. Ferrada
;
Keith A. Sikora
;
Cameron Rankin
;
Hugh Alessi
, et al.
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medRxiv
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7 .
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
저자
by
Wanxia L. Tsai
;
Robert A. Colbert
;
Marcus Y Chen
;
Arlene Sirajuddin
;
Ryan S. Laird
, et al.
소스
Arthritis & Rheumatology
. 73:1886-1895
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7 .
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
저자
by
Sarthak Gupta
;
Amanda K. Ombrello
;
Emily Rominger
;
Megan Trick
;
Karyl S. Barron
, et al.
소스
New England Journal of Medicine
. 383:2628-2638
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7 .
A prospective observational cohort study and systematic review of 40 patients with mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome
저자
by
Emily Rose
;
Kaitlin A. Quinn
;
Emily Rominger
;
Cindy Clark
;
Keith A. Sikora
, et al.
소스
Seminars in arthritis and rheumatism
. 52
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7 .
Patient-perceived Burden of Disease in Pediatric Relapsing Polychondritis
저자
by
Casey A. Rimland
;
Keith A. Sikora
;
James D. Katz
;
Marcela A. Ferrada
;
Ninet Sinaii
, et al.
소스
J Rheumatol
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7 .
Defining Clinical Subgroups in Relapsing Polychondritis: A Prospective Observational Cohort Study
저자
by
Keith A. Sikora
;
Casey A. Rimland
;
Arlene Sirajuddin
;
Marcela A. Ferrada
;
Kaitlin A. Quinn
, et al.
소스
Arthritis Rheumatol
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7 .
The Role of Autophagy in the Degradation of Misfolded HLA-B27 Heavy Chains
저자
by
Robert A. Colbert
;
Gerlinde Layh-Schmitt
;
Fatemeh Navid
;
Keith A. Sikora
;
Antony Cougnoux
.
소스
Arthritis & Rheumatology
. 70:746-755
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7 .
Somatic Mutations in a Single Residue of UBA1 Cause Vexas, a Severe Adult-Onset Rheumatic Disease Associated with Myeloid Dysplasia
저자
by
Zhijie Wu
;
Shawn M. Burgess
;
Keith A. Sikora
;
Alina Dulau Florea
;
Emma M. Groarke
, et al.
소스
Blood
. 136:36-37
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7 .
Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease
저자
by
Daniel L. Kastner
;
Achim Werner
;
Megan Trick
;
Emma M. Groarke
;
David B. Beck
, et al.
소스
Blood
. 136:20-21
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7 .
OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1
저자
by
P. Hoffman
;
Y. Lou
;
Anne Jones
;
Keith A. Sikora
;
DL Kastner
, et al.
소스
Annals of the Rheumatic Diseases
. 80:49-49
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