Detalhe da pesquisa
1.
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Circulation
; 140(3): 184-192, 2019 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006259
2.
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605126
3.
The experiences of UK-based genetic counsellors working in mainstream settings.
Eur J Hum Genet
; 30(11): 1283-1287, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918538
4.
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
J Am Heart Assoc
; 10(15): e020227, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310159
5.
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Can J Cardiol
; 37(6): 857-866, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290826
6.
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine.
Eur J Hum Genet
; 31(10): 1195, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337092
7.
The future is mainstream: genetic counselling should be embedded in mainstream medicine.
Eur J Hum Genet
; 31(10): 1097-1098, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264222
8.
The promise and challenges of precision medicine in dilated cardiomyopathy.
Eur Heart J Case Rep
; 5(11): ytab391, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746638
9.
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 13(3): e002905, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32396390