Detalhe da pesquisa
1.
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.
Am J Med Genet A
; 185(2): 561-565, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185983
2.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273341
3.
Perceived fatigue in children and young adults with neurofibromatosis type 1.
J Paediatr Child Health
; 56(6): 878-883, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916647
4.
Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.
J Med Genet
; 52(8): 557-62, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26104281
5.
Quantification of structural changes in the corpus callosumin children with profound hypoxic-ischaemic brain injury.
Pediatr Radiol
; 46(1): 73-81, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26403618
6.
Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.
Otol Neurotol
; 43(5): e563-e570, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261386
7.
Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.
Br J Haematol
; 166(6): 807, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989649
8.
Endoscopic third ventriculostomy: predicting outcome with phase-contrast MR imaging.
Radiology
; 252(3): 825-32, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19587307
9.
Does black blood MRA have a role in the assessment of intracerebral aneurysms?
Eur Radiol
; 19(1): 184-92, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18690453
10.
Glandular function in Sjögren syndrome: assessment with dynamic contrast-enhanced MR imaging and tracer kinetic modeling--initial experience.
Radiology
; 246(3): 845-53, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18235107
11.
Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging.
Br J Radiol
; 88(1056): 20150088, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26369989
12.
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nat Commun
; 6: 8038, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333769
13.
Multifocality in neurofibromatosis type 2.
Neuro Oncol
; 17(4): 481-2, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537020
14.
Picture quiz: a case of sudden severe chest pain.
Acute Med
; 6(1): 27, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-21611610
15.
Percutaneous ultrasound-guided thrombin injection for endoleaks: an alternative.
Cardiovasc Intervent Radiol
; 28(1): 110-2, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15772728