Detalhe da pesquisa
1.
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Brain
; 147(4): 1278-1293, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956038
2.
Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.
J Transl Med
; 20(1): 29, 2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35033101
3.
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Am J Med Genet A
; 188(10): 3100-3105, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838082
4.
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
BMC Med Genet
; 21(Suppl 1): 197, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092578
5.
Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
J Natl Compr Canc Netw
; 20(2): xxv, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130501
6.
Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.
Clin Pract
; 14(3): 928-933, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38804405
7.
Impact of the STK11/KRAS co-mutation on the response to immunotherapy in a real-world pan-cancer cohort.
Tumori
; 110(2): 146-152, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817679
8.
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Genes (Basel)
; 14(8)2023 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628605
9.
Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results.
Clin Exp Med
; 23(6): 2663-2674, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752890
10.
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.
Front Neurol
; 13: 1008937, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36425804