Detalhe da pesquisa
1.
A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.
Mol Biol Rep
; 49(2): 1623-1630, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846648
2.
BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation.
Int J Gynecol Cancer
; 2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028233
3.
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Mol Diagn Ther
; 27(5): 621-630, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548905
4.
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
Genes (Basel)
; 14(8)2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628659
5.
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
J Clin Med
; 11(13)2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807105
6.
Direct Antiviral Treatments for Hepatitis C Virus Have Off-Target Effects of Oncologic Relevance in Hepatocellular Carcinoma.
Cancers (Basel)
; 12(9)2020 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961688