Detalhe da pesquisa
1.
Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
Eur Heart J
; 38(23): 1832-1839, 2017 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28387827
2.
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
Eur J Hum Genet
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627541
3.
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Neurogenetics
; 14(1): 11-22, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334463
4.
Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed.
Cancer Chemother Pharmacol
; 87(3): 361-377, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169187
5.
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Brain
; 130(Pt 8): 2045-54, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17584774
6.
Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey.
J Huntingtons Dis
; 5(2): 207-13, 2016 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27372053