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1 . Academic Journal
Case report: Novel variants in RELA associated with familial Behcet’s-like disease.
저자
by
An, Jason W.
;
Pimpale-Chavan, Pallavi
;
Stone, Deborah L.
;
Bandeira, Marcia
;
Dedeoglu, Fatma
, et al.
소스
Frontiers in Immunology; 2/28/2023, Vol. 14, p1-7, 7p
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7 . Academic Journal
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
저자
by
Ferrada, Marcela A.
;
Sikora, Keith A.
;
Luo, Yiming
;
Wells, Kristina V.
;
Patel, Bhavisha
, et al.
소스
Arthritis & Rheumatology
. Oct2021, Vol. 73 Issue 10, p1886-1895. 10p.
Full Text (Wiley)
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7 . Academic Journal
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
저자
by
Aksentijevich, Ivona
;
Schnappauf, Oskar
.
소스
Nature Reviews Rheumatology
. Jul2021, Vol. 17 Issue 7, p405-425. 21p.
Web of Science
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4 . Academic Journal
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
저자
by
Schnappauf, Oskar
;
Heale, Liane
;
Dissanayake, Dilan
;
Tsai, Wanxia L.
;
Gadina, Massimo
, et al.
소스
Pediatric Rheumatology
. 4/23/2021, Vol. 19 Issue 1, p1-8. 8p.
Open Access (BioMed Central)
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7 . Editorial & Opinion
Deficiency of adenosine deaminase 2: Is it an elephant after all?
저자
by
Schnappauf, Oskar
;
Ombrello, Amanda K.
;
Kastner, Daniel L.
.
소스
In
The Journal of Allergy and Clinical Immunology
June 2020 145(6):1560-1561
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5 . Academic Journal
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
저자
by
Schnappauf, Oskar
;
Sampaio Moura, Natalia
;
Aksentijevich, Ivona
;
Stoffels, Monique
;
Ombrello, Amanda K.
, et al.
소스
Arthritis & Rheumatology
. Mar2021, Vol. 73 Issue 3, p512-519. 8p.
Full Text (Wiley)
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7 . Academic Journal
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
저자
by
Schnappauf, Oskar
;
Zhou, Qing
;
Moura, Natalia Sampaio
;
Ombrello, Amanda K.
;
Michael, Drew G.
, et al.
소스
Journal of Clinical Immunology
. Aug2020, Vol. 40 Issue 6, p917-926. 10p.
Web of Science
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7 . Academic Journal
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
저자
by
Glinton, Kevin E.
;
Hurst, Anna C. E.
;
Bowling, Kevin M.
;
Cristian, Ingrid
;
Haynes, Devon
, et al.
소스
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1366-1378, 13p
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7 . Academic Journal
Current and future advances in genetic testing in systemic autoinflammatory diseases.
저자
by
Schnappauf, Oskar
;
Aksentijevich, Ivona
.
소스
Rheumatology
. 2019 Supplement, Vol. 58, pvi44-vi55. 12p. 2 Charts.
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4 . Academic Journal
Genetische Diagnostik autoinflammatorischer Erkrankungen. (German)
저자
by
Schnappauf, Oskar
.
소스
Zeitschrift für Rheumatologie; Sep2020, Vol. 79 Issue 7, p611-623, 13p
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