Detalhe da pesquisa
1.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet
; 32(3): 353-356, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396997
2.
Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.
J Genet Couns
; 27(3): 732-743, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944441
3.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clin Genet
; 99(3): 481-483, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226119
4.
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Neuromuscul Disord
; 33(6): 463-467, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119590
5.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894