Detalhe da pesquisa
1.
DICER1 -Altered Extraovarian Moderately Differentiated Sertoli-Leydig Cell Tumor: Report of a Rare Case.
Int J Gynecol Pathol
; 42(4): 421-425, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044308
2.
Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.
Proc Natl Acad Sci U S A
; 117(10): 5394-5401, 2020 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094176
3.
ABCC4, ITPA, NUDT15, TPMT and their interaction as genetic predictors of 6-mercaptopurine intolerance in chinese patients with acute lymphoblastic leukemia.
Pediatr Hematol Oncol
; 39(3): 254-266, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665987
4.
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
J Med Genet
; 51(9): 590-5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25062847
5.
Case report: Therapy-related myeloid neoplasms in three pediatric cases with medulloblastoma.
Front Oncol
; 14: 1364199, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38595820
6.
Case Report: Primary Thoracic Low-Grade Fibromyxoid Sarcoma in a Young Girl Presenting With Mediastinal Mass Syndrome.
Front Pediatr
; 10: 885068, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783305
7.
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
J Dermatolog Treat
; 32(1): 29-32, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280950
8.
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Front Neurosci
; 13: 1324, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920494