Detalhe da pesquisa
1.
Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing.
Mol Biol Rep
; 50(4): 3119-3127, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692677
2.
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Int J Mol Sci
; 24(8)2023 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108593
3.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Int J Mol Sci
; 24(23)2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069202
4.
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Ophthalmic Res
; 65(2): 180-195, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781295
5.
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Eat Weight Disord
; 27(5): 1869-1880, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34822136
6.
A genetic score for the prediction of beta-thalassemia severity.
Haematologica
; 100(4): 452-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480500
7.
IFNL3 polymorphisms and HCV infection in patients with beta thalassemia.
Ann Hepatol
; 14(3): 389-95, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25864220
8.
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Genes (Basel)
; 14(8)2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628650
9.
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
Minerva Endocrinol (Torino)
; 47(1): 4-10, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988008
10.
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Sci Rep
; 12(1): 3774, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260635
11.
PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65.
Gene
; 832: 146554, 2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35569774
12.
Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder.
J Prev Med Hyg
; 63(2 Suppl 3): E297-E305, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36479493
13.
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
J Clin Med
; 11(24)2022 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556146
14.
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
J Pers Med
; 12(2)2022 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207755
15.
ITS-1 versus ITS-2 pyrosequencing: a comparison of fungal populations in truffle grounds.
Mycologia
; 103(6): 1184-93, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700633
16.
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Genes (Basel)
; 12(12)2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946832
17.
A fast, reliable and easy method to detect within-species DNA contamination.
Acta Biomed
; 91(13-S): e2020019, 2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170178
18.
Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.
Acta Biomed
; 91(13-S): e2020010, 2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170156
19.
Bacteriophages in food supplements obtained from natural sources.
Acta Biomed
; 91(13-S): e2020025, 2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170168
20.
appMAGI: A complete laboratory information management system for clinical diagnostics.
Acta Biomed
; 91(13-S): e2020015, 2020 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170177