Detalhe da pesquisa
1.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
2.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Int J Mol Sci
; 22(24)2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948243
3.
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis.
Cancer Cell Int
; 19: 274, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673247
4.
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Mediators Inflamm
; 2019: 3293145, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32082075
5.
Practices and Perceptions of Family Centered Care among Healthcare Providers: A Cross-sectional Study in a Pediatric Hospital.
J Pediatr Nurs
; 43: e18-e25, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139704
6.
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Intern Emerg Med
; 18(3): 711-722, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662445
7.
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.
Front Genet
; 14: 1143795, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36761000
8.
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Genes (Basel)
; 13(4)2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456494
9.
SPTBN5, Encoding the ßV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Front Mol Neurosci
; 15: 877258, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782384
10.
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
Front Genet
; 12: 761264, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34925453
11.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Brain Sci
; 11(7)2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356170
12.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Front Oncol
; 11: 740860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485163
13.
Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.
Ther Adv Musculoskelet Dis
; 13: 1759720X211037178, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34527082
14.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Front Oncol
; 11: 649435, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026625
15.
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.
Front Oncol
; 10: 1467, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32974172
16.
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.
Cancer Med
; 9(6): 2052-2061, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991072