Detalhe da pesquisa
1.
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
J Med Genet
; 59(1): 39-45, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106377
2.
The DAMA Project - Disabled Advanced Medical Assistance.
Psychiatr Danub
; 35(Suppl 3): 73-76, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994066
3.
COVID-19 pandemic, the scarcity of medical resources, community-centred medicine and discrimination against persons with disabilities.
J Med Ethics
; 2021 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827907
4.
Medical thoracoscopy treatment for pleural infections: a systematic review and meta-analysis.
BMC Pulm Med
; 21(1): 127, 2021 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879116
5.
Odontogenic rhinosinusitis and sinonasal complications of dental disease or treatment: prospective validation of a classification and treatment protocol.
Eur Arch Otorhinolaryngol
; 276(2): 401-406, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30483941
6.
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex.
Am J Med Genet C Semin Med Genet
; 178(3): 355-364, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253036
7.
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
Am J Med Genet A
; 170(6): 1538-44, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061015
8.
KMT2A: Umbrella Gene for Multiple Diseases.
Genes (Basel)
; 13(3)2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328068
9.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Eur J Hum Genet
; 29(1): 88-98, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641752
10.
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells.
Am J Pathol
; 174(6): 2150-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19443708
11.
Metastatic lung cancer presenting as thoracic empyema. A Case report.
Clin Case Rep
; 8(3): 484-486, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185041
12.
Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability.
Amyotroph Lateral Scler
; 10(5-6): 410-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19922132
13.
[Descending necrotising mediastinitis: report of two cases]. / Descrizione di due casi di mediastinite discendente.
Ann Ital Chir
; 79(3): 209-11, 2008.
Artigo
em Italiano
| MEDLINE | ID: mdl-18958971
14.
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
Eur J Med Genet
; 61(7): 403-410, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432982
15.
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.
PLoS One
; 11(5): e0155331, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171001
16.
Endoscopic adenoidectomy: a systematic analysis of outcomes and complications in 1006 patients.
Acta Otorhinolaryngol Ital
; 40(1): 79-86, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275649