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1 . Academic Journal
Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin
저자
by
Flavio Sztajnbok
;
Adriana Rodrigues Fonseca
;
Leonardo Rodrigues Campos
;
Kátia Lino
;
Marta Cristine Félix Rodrigues
, et al.
소스
Advances in Rheumatology, Vol 64, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)
저자
by
Jonas Johannes Papendorf
;
Frédéric Ebstein
;
Sara Alehashemi
;
Daniela Gerent Petry Piotto
;
Anna Kozlova
, et al.
소스
Frontiers in Immunology, Vol 14 (2023)
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7 . Academic Journal
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
저자
by
Caio Robledo D.’Angioli Costa Quaio
;
Jose Ricardo Magliocco Ceroni
;
Murilo Castro Cervato
;
Helena Strelow Thurow
;
Caroline Monaco Moreira
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
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7 . Academic Journal
What General Neurologists Should Know about Autoinflammatory Syndromes?
저자
by
Marianna Pinheiro Moraes de Moraes
;
Renan Rodrigues Neves Ribeiro do Nascimento
;
Fabiano Ferreira Abrantes
;
José Luiz Pedroso
;
Sandro Félix Perazzio
, et al.
소스
Brain Sciences, Vol 13, Iss 9, p 1351 (2023)
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7 . Academic Journal
Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned
저자
by
Caio Robledo D’Angioli Costa Quaio
;
Caroline Monaco Moreira
;
Christine Hsiaoyun Chung
;
Sandro Felix Perazzio
;
Aurelio Pimenta Dutra
, et al.
소스
São Paulo Medical Journal (2022)
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7 . Academic Journal
Use and misuse of biomarkers and the role of D-dimer and C-reactive protein in the management of COVID-19: A post-hoc analysis of a prospective cohort study
저자
by
Fabio Augusto Rodrigues Gonçalves
;
Bruno Adler Maccagnan Pinheiro Besen
;
Clarice Antunes de Lima
;
Aline Pivetta Corá
;
Antônio José Rodrigues Pereira
, et al.
소스
Clinics, Vol 76 (2021)
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7 . Academic Journal
A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
저자
by
Sandro Félix Perazzio
;
Patricia Palmeira
;
Dewton Moraes-Vasconcelos
;
Andréia Rangel-Santos
;
João Bosco de Oliveira
, et al.
소스
Frontiers in Immunology, Vol 12 (2021)
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7 . Academic Journal
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
저자
by
Caio Robledo D’Angioli Costa Quaio
;
María José Rivadeneira Obando
;
Sandro Felix Perazzio
;
Aurelio Pimenta Dutra
;
Christine Hsiaoyun Chung
, et al.
소스
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
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7 . Academic Journal
Perception of usefulness of laboratory tests ordering by internal medicine residents in ambulatory setting: A single-center prospective cohort study.
저자
by
Dimitria Doi
;
Romulo Ribeiro do Vale
;
Jean Michell Correia Monteiro
;
Glauco Cabral Marinho Plens
;
Mario Ferreira Junior
, et al.
소스
PLoS ONE, Vol 16, Iss 5, p e0250769 (2021)
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7 . Academic Journal
Remodeling of the Immune Response With Aging: Immunosenescence and Its Potential Impact on COVID-19 Immune Response
저자
by
Lucas Leite Cunha
;
Sandro Felix Perazzio
;
Jamil Azzi
;
Paolo Cravedi
;
Leonardo Vidal Riella
.
소스
Frontiers in Immunology, Vol 11 (2020)
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