Detalhe da pesquisa
1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
2.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
3.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
4.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
5.
Change in lentigo maligna score assessed by in vivo reflectance confocal microscopy after 1 month of imiquimod treatment for lentigo maligna management.
J Am Acad Dermatol
; 86(5): 1042-1048, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785385
6.
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Clin Genet
; 100(4): 462-467, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212369
7.
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Pediatr Dermatol
; 36(2): 242-246, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30762251
8.
High-Density of FcγRIIIA+ (CD16+) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independently of the HLA-E/CD94-NKG2A Axis.
Front Oncol
; 11: 684478, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211852
9.
Medicopsis romeroi nodular subcutaneous infection in a kidney transplant recipient.
Int J Infect Dis
; 95: 262-264, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339721
10.
Prospective evaluation of two screening methods for molecular testing of metastatic melanoma: Diagnostic performance of BRAF V600E immunohistochemistry and of a NRAS-BRAF fully automated real-time PCR-based assay.
PLoS One
; 14(8): e0221123, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31415669