Detalhe da pesquisa
1.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142000
2.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
J Med Genet
; 56(4): 236-245, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464053
3.
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Kidney Int
; 94(2): 363-371, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801666
4.
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Cytogenet Genome Res
; 146(3): 181-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26382598
5.
Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.
J Am Coll Cardiol
; 78(7): 643-662, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384546
6.
Expanding the scope of cinchona alkaloid-catalyzed enantioselective alpha-aminations of oxindoles: a versatile approach to optically active 3-amino-2-oxindole derivatives.
J Org Chem
; 74(23): 8935-8, 2009 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19950878
7.
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]. / Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio.
An Pediatr (Engl Ed)
; 89(1): 3-11, 2018 Jul.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28958749
8.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Eur J Hum Genet
; 26(7): 1014-1025, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511324
9.
Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.
Heart
; 102(8): 626-32, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26848186
10.
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Clin Chim Acta
; 437: 88-92, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25046559
11.
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Rev Esp Cardiol (Engl Ed)
; 67(10): 861-3, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25200617