Detalhe da pesquisa
1.
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
2.
Schwannomatosis: a genetic and epidemiological study.
J Neurol Neurosurg Psychiatry
; 89(11): 1215-1219, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909380
3.
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Eur J Hum Genet
; 30(7): 812-817, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361920
4.
Recalibration of thinking about adrenocortical function assessment: how the 'random' cortisol relates to the short synacthen test results.
Cardiovasc Endocrinol Metab
; 10(2): 137-145, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113799
5.
Can we check serum lithium levels less often without compromising patient safety?
BJPsych Open
; 8(1): e18, 2021 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915951