Detalhe da pesquisa
1.
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.
Curr Issues Mol Biol
; 46(2): 1150-1163, 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38392191
2.
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.
Int J Mol Sci
; 23(16)2022 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36012436
3.
CCR3 gene overexpression in patients with Down syndrome.
Mol Biol Rep
; 48(6): 5335-5338, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34184200
4.
Killer-specific secretory (Ksp37) gene expression in subjects with Down's syndrome.
Neurol Sci
; 37(5): 793-5, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27032399
5.
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities.
Int J Environ Res Public Health
; 18(17)2021 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34501904
6.
NF-kB1 gene expression in Down syndrome patients.
Neurol Sci
; 36(6): 1065-6, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25318693
7.
Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.
J Parkinsons Dis
; 9(1): 203-206, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30400105
8.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Eur J Med Genet
; 60(2): 93-99, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27838393
9.
Methylation analysis of multiple genes in blood DNA of Alzheimer's disease and healthy individuals.
Neurosci Lett
; 600: 143-7, 2015 Jul 23.
Artigo
Inglês
| MEDLINE | ID: mdl-26079324
10.
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Exp Mol Med
; 42(2): 81-6, 2010 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-19946181
11.
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Exp Mol Med
; 42(12): 842-8, 2010 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-21072004
12.
Carrier screening for spinal muscular atrophy in Italian population.
J Genet
; 93(1): 179-81, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24840836
13.
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
Am J Med Genet B Neuropsychiatr Genet
; 141B(6): 584-90, 2006 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-16823807