Detalhe da pesquisa
1.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell
; 187(2): 390-408.e23, 2024 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157855
2.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776920
3.
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
J Clin Immunol
; 44(3): 62, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363432
4.
Life-threatening infections in human newborns: Reconciling age-specific vulnerability and interindividual variability.
Cell Immunol
; 397-398: 104807, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232634
5.
COVID-19 associated severe mucocutaneous blistering eruptions: A case series.
Pediatr Dermatol
; 40(6): 990-995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526023
6.
Fulminant echovirus 11 hepatitis in male non-identical twins in northern Italy, April 2023.
Euro Surveill
; 28(24)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318763
7.
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
J Clin Immunol
; 42(2): 299-311, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718934
8.
Convalescent Plasma for Covid-19-Induced ARDS.
N Engl J Med
; 390(4): 384-385, 2024 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38265659
9.
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.
Am J Med Genet A
; 188(2): 635-641, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713961
10.
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Proc Natl Acad Sci U S A
; 116(3): 950-959, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591557
11.
Phamacological treatment of persistant lower urinary tract symptoms after a transurethral resection of the prostate is predictive of a new surgical treatment: 10 years follow-up study.
Neurourol Urodyn
; 40(2): 722-727, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508153
12.
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Clin Infect Dis
; 71(10): e614-e623, 2020 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185379
13.
Susceptibility to infection in early life: a growing role for human genetics.
Hum Genet
; 139(6-7): 733-743, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932884
14.
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.
Proc Natl Acad Sci U S A
; 114(4): E514-E523, 2017 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069966
15.
Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms.
Blood
; 139(17): 2716-2720, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100354
16.
New Diagnostic Possibilities for Neonatal Sepsis.
Am J Perinatol
; 35(6): 575-577, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29695000
17.
Novel Approaches to the Study of Neonatal Infections.
Am J Perinatol
; 35(6): 570-574, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29694999
18.
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis.
J Clin Immunol
; 42(7): 1354-1359, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207567
19.
Isolated congenital asplenia: An overlooked cause of thrombocytosis.
Am J Hematol
; 97(8): 1110-1115, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266186
20.
Care System Versus Transmitted Light Wavefront Pattern of Contact Lenses.
Eye Contact Lens
; 43(3): 181-185, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27078617