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1 . Academic Journal
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies
저자
by
Cordero, Elisa
;
Goycochea-Valdivia, Walter
;
Mendez-Echevarria, Ana
;
Allende, Luis M.
;
Alsina, Laia
, et al.
소스
In
Enfermedades infecciosas y microbiologia clinica (English ed.)
November 2020 38(9):438-443
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7 . Academic Journal
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
저자
by
Mensa-Vilaró, Anna
;
Bravo García-Morato, María
;
de la Calle-Martin, Oscar
;
Franco-Jarava, Clara
;
Martínez-Saavedra, María Teresa
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2019 143(1):359-368
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7 . Academic Journal
Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature
저자
by
Matas Pérez, Elisabet
;
Valdivieso Shephard, Juan Luis
;
Bravo García-Morato, María
;
Robles Marhuenda, Ángel
;
Martinez-Ojinaga Nodal, Eva
, et al.
소스
In
Clinical Immunology
September 2021 230
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7 . Academic Journal
Identification of the first cases of complete CD16A deficiency: Association with persistent EBV infection
저자
by
Pérez-Portilla, A.
;
Moraru, M.
;
Blázquez-Moreno, Alfonso
;
Kolb, Philipp
;
Bravo García-Morato, María
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
April 2020 145(4):1288-1292
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7 . Academic Journal
Impaired control of multiple viral infections in a family with complete IRF9 deficiency
저자
by
Bravo García-Morato, María
;
Calvo Apalategi, Ane
;
Bravo-Gallego, Luz Yadira
;
Blázquez Moreno, Alfonso
;
Simón-Fuentes, Miriam
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
July 2019 144(1):309-312
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7 . Academic Journal
Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16
저자
by
Bravo García-Morato, María
;
Nevado, Julián
;
González-Granado, Luis Ignacio
;
Sastre Urgelles, Ana
;
Rodríguez Pena, Rebeca
, et al.
소스
In
The Journal of Allergy and Clinical Immunology: In Practice
July-August 2017 5(4):1146-1148
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7 .
A mutation in the promoter region of BTK causes atypical XLA
저자
by
Bravo García-Morato, María
;
del Pino Molina, Lucía
;
Torres Canizales, Juan Manuel
;
del Rosal Rabes, Teresa
;
Méndez Echevarría, Ana
, et al.
소스
In
Heliyon
September 2020 6(9)
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7 . Academic Journal
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
저자
by
Fernández, Luis
;
Casamayor Polo, Laura
;
Bravo García‐Morato, María
;
Enguita Valls, Ana Belén
;
Ruiz‐Bravo, Elena
, et al.
소스
Clinical Genetics
. Mar2021, Vol. 99 Issue 3, p481-483. 3p.
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7 . Academic Journal
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions
저자
by
Martin-Fernandez, Marta
;
Bravo Garcia-Morato, Maria
;
Gruber, Conor
;
Murias Loza, Sara
;
Malik, Muhammad Nasir Hayat
, et al.
소스
CELL REPORTS
; MAY 12 2020, 31 6, p107633 22p.
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7 .
Hematologically Important Mutations: The Autosomal Forms Of Chronic Granulomatous Disease (Third Update)
저자
by
Roos, Dirk
;
van Leeuwen, Karin
;
Hsu, Amy P.
;
Priel, Debra Long
;
Begtrup, Amber
, et al.
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