Detalhe da pesquisa
1.
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet
; 105(2): 140-149, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904618
2.
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
Int J Mol Sci
; 23(18)2022 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142358
3.
Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension.
Rev Esp Cardiol (Engl Ed)
; 76(6): 460-467, 2023 Jun.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36403940
4.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372360
5.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Genes (Basel)
; 14(10)2023 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895315
6.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Genes (Basel)
; 14(9)2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761804
7.
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.
Genes (Basel)
; 13(5)2022 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627312
8.
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties.
Diagnostics (Basel)
; 11(1)2021 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33477983