Detalhe da pesquisa
1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet;
142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37079061
2.
Pure Dephasing of Light-Matter Systems in the Ultrastrong and Deep-Strong Coupling Regimes.
Phys Rev Lett;
130(12): 123601, 2023 Mar 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37027872
3.
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
J Neurol Neurosurg Psychiatry;
94(3): 201-210, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36460438
4.
Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study.
Cephalalgia;
43(6): 3331024231164361, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37345616
5.
Spontaneous Scattering of Raman Photons from Cavity-QED Systems in the Ultrastrong Coupling Regime.
Phys Rev Lett;
129(27): 273602, 2022 Dec 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36638299
6.
Headache in progressive facial hemiatrophy (Parry-Romberg syndrome): A paradigmatic case and systematic review of the literature.
Cephalalgia;
42(4-5): 409-425, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34569314
7.
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Eur J Neurol;
29(1): 19-25, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34519126
8.
Novel "T-Dimension" Therapies for Pediatric Optic Pathway Glioma: A Timely, Targeted, and Tailored Treatment Trend.
Pediatr Neurosurg;
57(3): 161-174, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35588700
9.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav;
124: 108315, 2021 Oct 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34619538
10.
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Epilepsy Behav;
103(Pt A): 106578, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31680025
11.
Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients.
Neurol Sci;
41(9): 2353-2366, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32767055
12.
Pai syndrome: a review.
Childs Nerv Syst;
36(11): 2635-2640, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32651596
13.
Clinical variability in children with dolichoarteriopathies of the internal carotid artery.
Childs Nerv Syst;
36(3): 621-628, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31701280
14.
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study.
Minerva Pediatr;
72(2): 73-78, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28211643
15.
Interaction of Mechanical Oscillators Mediated by the Exchange of Virtual Photon Pairs.
Phys Rev Lett;
122(3): 030402, 2019 Jan 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30735421
16.
Gradenigo's syndrome with abscess of the petrous apex in pediatric patients: what is the best treatment?
Childs Nerv Syst;
35(12): 2265-2272, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31432224
17.
Measurement of nitric oxide and assessment of airway diseases in children: an update.
Minerva Pediatr;
71(6): 524-532, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31352766
18.
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.
Acta Neurol Scand;
138(6): 523-530, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30109707
19.
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
Cytogenet Genome Res;
152(3): 111-116, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28877528
20.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med;
19(6): 691-700, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27831545