Detalhe da pesquisa
1.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
2.
Symptoms of anxiety and depression and family's quality of life in children and adolescents with epilepsy.
Epilepsy Behav
; 79: 146-153, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29289902
3.
Cognitive, adaptive, and behavioral features in Joubert syndrome.
Am J Med Genet A
; 170(12): 3115-3124, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530364
4.
Experiential virtual scenarios with real-time monitoring (interreality) for the management of psychological stress: a block randomized controlled trial.
J Med Internet Res
; 16(7): e167, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25004803
5.
A Machine Learning Approach to the Diagnosis of Autism Spectrum Disorder and Multi-Systemic Developmental Disorder Based on Retrospective Data and ADOS-2 Score.
Brain Sci
; 13(6)2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371363
6.
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Disabil Rehabil
; 44(18): 4966-4973, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010585
7.
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Mol Genet Genomic Med
; 8(9): e1373, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588496
8.
3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies.
Eur J Radiol
; 85(5): 906-14, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130050
9.
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.
Brain Imaging Behav
; 10(1): 158-67, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832852
10.
Benign external hydrocephalus in infants. A single centre experience and literature review.
Neuroradiol J
; 27(2): 245-50, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24750715
11.
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Orphanet J Rare Dis
; 6: 36, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21651769