Detalhe da pesquisa
1.
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
J Clin Immunol
; 36(7): 693-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27539236
2.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
3.
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.
Neuropediatrics
; 44(4): 213-7, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349001
4.
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period.
Sci Rep
; 11(1): 16316, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34381139
5.
Sleep disturbances in visually impaired toddlers.
Brain Dev
; 30(9): 572-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18424029
6.
A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results.
J Child Neurol
; 29(2): 167-81, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352162
7.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Nat Genet
; 46(5): 503-509, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24686847
8.
Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years.
Early Hum Dev
; 88(4): 241-50, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962769