Search details
1.
FunTaxIS-lite: a simple and light solution to investigate protein functions in all living organisms.
Bioinformatics
; 39(9)2023 09 02.
Article
in English
| MEDLINE | ID: mdl-37672040
2.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36322151
3.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34232366
4.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33442900
5.
Carbohydrate determination in honey samples by ion chromatography-mass spectrometry (HPAEC-MS).
Anal Bioanal Chem
; 412(22): 5217-5227, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32488387
6.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31090057
7.
Pathway Inspector: a pathway based web application for RNAseq analysis of model and non-model organisms.
Bioinformatics
; 33(3): 453-455, 2017 02 01.
Article
in English
| MEDLINE | ID: mdl-28158604
8.
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Am J Med Genet A
; 173(7): 1896-1902, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28462983
9.
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Am J Med Genet A
; 173(1): 231-238, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27683195
10.
Enhancing protein function prediction with taxonomic constraints--The Argot2.5 web server.
Methods
; 93: 15-23, 2016 Jan 15.
Article
in English
| MEDLINE | ID: mdl-26318087
11.
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
Am J Med Genet A
; 170(9): 2445-8, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27374896
12.
keeSeek: searching distant non-existing words in genomes for PCR-based applications.
Bioinformatics
; 30(18): 2662-4, 2014 Sep 15.
Article
in English
| MEDLINE | ID: mdl-24867942
13.
Reducing bias in RNA sequencing data: a novel approach to compute counts.
BMC Bioinformatics
; 15 Suppl 1: S7, 2014.
Article
in English
| MEDLINE | ID: mdl-24564404
14.
Bioinformatic approaches for functional annotation and pathway inference in metagenomics data.
Brief Bioinform
; 13(6): 696-710, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23175748
15.
Comparative analysis of algorithms for whole-genome assembly of pyrosequencing data.
Brief Bioinform
; 13(3): 269-80, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22021898
16.
Pathway Processor 2.0: a web resource for pathway-based analysis of high-throughput data.
Bioinformatics
; 29(14): 1825-6, 2013 Jul 15.
Article
in English
| MEDLINE | ID: mdl-23740747
17.
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
BMC Med Genet
; 15: 15, 2014 Jan 28.
Article
in English
| MEDLINE | ID: mdl-24472332
18.
Studies in Mexican Grasshoppers: Liladownsia fraile, a new genus and species of Dactylotini (Acrididae: Melanoplinae) and an updated molecular phylogeny of Melanoplinae.
Zootaxa
; 3793: 475-95, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24870186
19.
A new species of the genus Embia Latreille, 1825 (Insecta, Embioptera) from the Madonie Regional Natural Park (Sicily, Italy).
Zootaxa
; 5418(3): 255-267, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38480358
20.
Impact of landscape composition on honey bee pollen contamination by pesticides: A multi-residue analysis.
Chemosphere
; 349: 140829, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38042427