Detalhe da pesquisa
1.
A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.
BMC Endocr Disord
; 21(1): 71, 2021 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858404
2.
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome.
Eur J Med Genet
; 66(6): 104763, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054968
3.
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study.
Genes (Basel)
; 12(12)2021 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946904