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PubPharm (17)
1
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19
enthalten in:
Journal of clinical immunology
| 2022
von
Khanmohammadi, S.
|
Rezaei, N.
|
Khazaei, M.
| +1
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2
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
enthalten in:
Journal of clinical immunology
| 2022
von
Abolhassani, H.
|
Vosughimotlagh, A.
|
Asano, T.
| +17
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3
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity
enthalten in:
Science immunology
| 2020
von
Salzer, E.
|
Zoghi, S.
|
Kiss, M.
| +26
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4
Expanding the mutational spectrum in Johanson-Blizzard syndrome : identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
enthalten in:
Molecular genetics & genomic medicine
| 2017
von
Sukalo, M.
|
Schäflein, E.
|
Schanze, I.
| +8
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5
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis
enthalten in:
European journal of medical genetics
| 2016
von
Aflatounian, M.
|
Smith, H.
|
Farahani, F.
| +8
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6
Spectrum of Phenotypes Associated with Mutations in LRBA
enthalten in:
Journal of clinical immunology
| 2016
von
Alkhairy, O.
|
Abolhassani, H.
|
Rezaei, N.
| +10
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7
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency
enthalten in:
The Journal of allergy and clinical immunology
| 2015
von
Alkhairy, O.
|
Rezaei, N.
|
Graham, R.
| +9
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8
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
enthalten in:
The Journal of allergy and clinical immunology
| 2014
von
Abolhassani, H.
|
Wang, N.
|
Aghamohammadi, A.
| +6
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9
Autosomal recessive agammaglobulinemia : a novel non-sense mutation in CD79a
enthalten in:
Journal of clinical immunology
| 2014
von
Khalili, A.
|
Plebani, A.
|
Vitali, M.
| +5
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10
Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma
enthalten in:
Pediatric dermatology
| 2013
von
Sayyahfar, S.
|
Chavoshzadeh, Z.
|
Khaledi, M.
| +5
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1
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Medienart: E-Ressourcen
Medienart
17
Aufsätze
17
E-Artikel
E-Ressourcen
Zeitschriftentitel
5
Journal of clinical immunology
2
The Journal of allergy and clinical immunology
1
Acta dermatovenerologica Croatica : ADC
1
American journal of human genetics
1
Annales d'endocrinologie
1
Blood
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1
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1
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Thema
Case Reports
Research Support, Non-U.S. Gov't
15
Journal Article
3
Research Support, N.I.H., Extramural
2
Adaptor Proteins, Signal Transducing
2
COVID-19
2
EC 2.7.10.-
2
LRBA protein, human
2
Letter
2
Research Support, N.I.H., Intramural
2
Review
1
128559-51-3
1
144351-15-5
1
156986-95-7
1
2-acylglycerophosphate acyltransferase
1
82115-62-6
1
9007-49-2
1
AICDA (activation-induced cytidine deaminase)
1
ATM
1
Acyltransferases
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Erscheinungszeitraum
3
2020-
14
2010-2019
Erscheinungsjahr(e)
Von:
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Sprache
17
Englisch
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