Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Molecular epidemiology of an enterovirus A71 outbreak associated with severe neurological disease, Spain, 2016.
Euro Surveill
; 24(7)2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30782267
3.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Hum Mutat
; 39(12): 1752-1763, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30176098