Detalhe da pesquisa
1.
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.
Neuropediatrics
; 52(6): 484-488, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853164
2.
Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait.
Sensors (Basel)
; 21(14)2021 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34300485
3.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
J Hum Genet
; 65(10): 855-864, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467589
4.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat
; 40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144778
5.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 40(9): 1346-1363, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209962
6.
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant.
Eur Child Adolesc Psychiatry
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700702
7.
Rhinencephalon changes in tuberous sclerosis complex.
Neuroradiology
; 60(8): 813-820, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909560
8.
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Metab Brain Dis
; 33(1): 261-269, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178011
9.
[Accurate compiling of the hospital discharge records according to clinicians' perception: critical issues and perspectives]. / L'accurata compilazione delle schede di dimissione ospedaliera secondo la percezione dei medici: criticità e prospettive.
Epidemiol Prev
; 42(1): 34-39, 2018.
Artigo
em Italiano
| MEDLINE | ID: mdl-29506359
10.
Volumetric image-guided conformal radiotherapy for localized prostate cancer: Analysis of dosimetric and clinical factors affecting acute and late toxicity.
Rep Pract Oncol Radiother
; 23(5): 315-321, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127670
11.
Oligometastatic cancer: stereotactic ablative radiotherapy for patients affected by isolated body metastasis.
Acta Oncol
; 56(11): 1621-1625, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28820285
12.
Volumetric image-guided highly conformal radiotherapy of the prostate bed: Toxicity analysis.
Rep Pract Oncol Radiother
; 22(1): 64-70, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920610
13.
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
J Hum Genet
; 61(4): 283-93, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657932
14.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Hum Mutat
; 41(6): 1183, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400065
15.
Identification of four novel PCDH19 Mutations and prediction of their functional impact.
Ann Hum Genet
; 78(6): 389-98, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227595
16.
Acute and late toxicity after three-dimensional conformal image-guided radiotherapy for localized prostate cancer.
Cancer Invest
; 32(10): 526-32, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25347610
17.
Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities.
BMC Cancer
; 13: 230, 2013 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23651532
18.
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.
Cells
; 12(13)2023 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443745
19.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434256
20.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Res Sq
; 2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577579