Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
3.
Radiosynthesis and Preclinical Evaluation of m-[18F]FET and [18F]FET-OMe as Novel [18F]FET Analogs for Brain Tumor Imaging.
Mol Pharm
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747353
4.
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Neuropediatrics
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547905
5.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
6.
The specific features of the developing T cell compartment of the neonatal lung are a determinant of respiratory syncytial virus immunopathogenesis.
PLoS Pathog
; 17(4): e1009529, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909707
7.
Pulmonary mesenchymal stem cells are engaged in distinct steps of host response to respiratory syncytial virus infection.
PLoS Pathog
; 17(7): e1009789, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320038
8.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
9.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
10.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
11.
CD90+CD146+ identifies a pulmonary mesenchymal cell subtype with both immune modulatory and perivascular-like function in postnatal human lung.
Am J Physiol Lung Cell Mol Physiol
; 318(4): L813-L830, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073879
12.
Characterization of pediatric cystic fibrosis airway epithelial cell cultures at the air-liquid interface obtained by non-invasive nasal cytology brush sampling.
Respir Res
; 18(1): 215, 2017 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282053
13.
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
Clin Genet
; 100(4): 489-490, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313322
14.
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.
Ann Clin Transl Neurol
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689506
15.
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
J Neurol
; 271(4): 1937-1946, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38127101
16.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
17.
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Endocrine
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940764
18.
Multiparameter flow cytometry assay to analyze the pulmonary T cell profiles in the ovine model of respiratory syncytial virus infection.
STAR Protoc
; 3(4): 101688, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116074
19.
Generation of precision-cut slice cultures of human placenta.
STAR Protoc
; 3(2): 101291, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35463475
20.
The spike gene is a major determinant for the SARS-CoV-2 Omicron-BA.1 phenotype.
Nat Commun
; 13(1): 5929, 2022 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207334