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1.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Curr Issues Mol Biol
; 45(3): 2422-2430, 2023 Mar 15.
Article
in English
| MEDLINE | ID: mdl-36975527
2.
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Int J Mol Sci
; 24(15)2023 Jul 31.
Article
in English
| MEDLINE | ID: mdl-37569667
3.
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia.
Clin Immunol
; 230: 108802, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34298181
4.
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache: Expanding the genotypic spectrum of CADASIL?
Clin Genet
; 102(1): 82-83, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35405766
5.
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Int J Mol Sci
; 17(8)2016 Jul 30.
Article
in English
| MEDLINE | ID: mdl-27483260
6.
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
Mol Vis
; 20: 325-33, 2014.
Article
in English
| MEDLINE | ID: mdl-24672218
7.
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.
Arch Ital Urol Androl
; 86(3): 171-4, 2014 Sep 30.
Article
in English
| MEDLINE | ID: mdl-25308578
8.
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.
Front Neurol
; 15: 1362013, 2024.
Article
in English
| MEDLINE | ID: mdl-38572490
9.
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.
Mov Disord Clin Pract
; 10(1): 124-129, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36704080
10.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
J Matern Fetal Neonatal Med
; 36(1): 2201653, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37041101
11.
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Biomedicines
; 11(7)2023 Jul 22.
Article
in English
| MEDLINE | ID: mdl-37509701
12.
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
Genes (Basel)
; 14(9)2023 09 10.
Article
in English
| MEDLINE | ID: mdl-37761922
13.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Front Cardiovasc Med
; 10: 1112759, 2023.
Article
in English
| MEDLINE | ID: mdl-37089884
14.
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
Front Endocrinol (Lausanne)
; 14: 1018441, 2023.
Article
in English
| MEDLINE | ID: mdl-37234811
15.
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mol Genet Metab Rep
; 37: 101000, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37662494
16.
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.
Biomedicines
; 10(12)2022 Dec 13.
Article
in English
| MEDLINE | ID: mdl-36552003
17.
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
Diagnostics (Basel)
; 12(7)2022 Jun 22.
Article
in English
| MEDLINE | ID: mdl-35885426
18.
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Diagnostics (Basel)
; 12(12)2022 Nov 30.
Article
in English
| MEDLINE | ID: mdl-36553004
19.
Impact of the COVID-19 Pandemic on Clinical Pathways for Non-SARS-CoV-2 Related Diseases in the Lazio Region, Italy.
Int J Environ Res Public Health
; 19(2)2022 01 06.
Article
in English
| MEDLINE | ID: mdl-35055455
20.
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways.
Int J Environ Res Public Health
; 19(13)2022 06 25.
Article
in English
| MEDLINE | ID: mdl-35805466