Detalhe da pesquisa
1.
GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Nucleic Acids Res
; 50(5): 2464-2479, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35176773
2.
Internal validation and improvement of mitochondrial genome sequencing using the Precision ID mtDNA Whole Genome Panel.
Int J Legal Med
; 135(6): 2295-2306, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491421
3.
Clinical and genetic characterization of an Italian family with slow-channel syndrome.
Neurol Sci
; 40(3): 503-507, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30542963
4.
The impact of non-additive genetic associations on age-related complex diseases.
Nat Commun
; 12(1): 2436, 2021 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893285
5.
Performance of four models for eye color prediction in an Italian population sample.
Forensic Sci Int Genet
; 40: 192-200, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30884346
6.
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
J Mol Diagn
; 18(6): 912-922, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27637300
7.
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Neurobiol Aging
; 35(5): 1212.e7-1212.e10, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325798