Detalhe da pesquisa
1.
The lack of Tex44 causes severe subfertility with flagellar abnormalities in male mice.
Cell Mol Biol Lett
; 29(1): 74, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750428
2.
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.
Hum Genet
; 140(7): 999-1010, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638707
3.
CyberKnife Stereotactic Radiosurgery for Uveal Melanoma: First Case Series in Central America.
Ocul Oncol Pathol
; 10(1): 25-31, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645736
4.
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.
iScience
; 27(3): 109260, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38439971
5.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Eur J Hum Genet
; 30(1): 101-110, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697416
6.
Pan-cancer analysis of non-oncogene addiction to DNA repair.
Sci Rep
; 11(1): 23264, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853396
7.
The Time for Chronotherapy in Radiation Oncology.
Front Oncol
; 11: 687672, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046365
8.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Cells
; 10(2)2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670307
9.
Mutational survivorship bias: The case of PNKP.
PLoS One
; 15(12): e0237682, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332469
10.
DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Transl Neurodegener
; 8: 14, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31110700
11.
CyberKnife Stereotactic Radiosurgery for an Unusual Case of Large Brain Metastases From Ewing's Sarcoma in a Pediatric Patient.
Adv Radiat Oncol
; 7(4): 100979, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35814851