Detalhe da pesquisa
1.
Unravelling the Regions of Mutant F508del-CFTR More Susceptible to the Action of Four Cystic Fibrosis Correctors.
Int J Mol Sci
; 20(21)2019 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31683989
2.
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Hum Mutat
; 38(7): 849-862, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477385
3.
A Motion Analysis Protocol for Kinematic Assessment of Poly-Articulated Prosthetic Hands With Cosmetic Gloves.
Artif Organs
; 41(12): E337-E346, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29028131
4.
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Hum Mutat
; 37(1): 16-27, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26462614
5.
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Mol Genet Metab
; 119(4): 329-337, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802905
6.
Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in a Fetus With Malformations Typical of Both Trisomies.
J Ultrasound Med
; 39(11): 2277-2279, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412111
7.
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Genes (Basel)
; 13(7)2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885962
8.
The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives.
Semin Pediatr Neurol
; 44: 100999, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36456039
9.
Combined medical therapy and neurosurgical revascularization preventing stroke in post-varicella angiopathy: Case report and review of literature.
Brain Dev
; 43(10): 1051-1056, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34332825
10.
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.
Genes (Basel)
; 12(12)2021 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946902
11.
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
J Neurol
; 268(12): 4846-4865, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046727
12.
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
J Rheumatol
; 44(11): 1667-1673, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916543
13.
Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV).
Int Angiol
; 41(2 Suppl 1): 1-130, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546136
14.
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy.
Quant Imaging Med Surg
; 11(1): 463-471, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33392044