Detalhe da pesquisa
1.
[Kids Lung Registry and Child-EU Project - Progress in Rare and Interstitial Lung Diseases in Childhood Through Collaboration]. / Kinderlungenregister (chILD-EU) Zusammenarbeit führt zu Fortschritten bei den seltenen und interstitiellen Lungenerkrankungen.
Klin Padiatr
; 236(2): 80-96, 2024 Feb.
Artigo
Alemão
| MEDLINE | ID: mdl-38109904
2.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33264411
3.
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Int J Mol Sci
; 24(8)2023 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37108718
4.
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Int J Mol Sci
; 24(9)2023 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37175887
5.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Clin Genet
; 100(4): 453-461, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34165204
6.
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Clin Genet
; 99(6): 789-801, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33598926
7.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Pediatr Pulmonol
; 58(11): 3095-3105, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37560881
8.
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.
Genet Med Open
; 1(1): 100811, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38230350
9.
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
Pediatr Pulmonol
; 56(12): 3934-3941, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34549903