Detalhe da pesquisa
1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
2.
A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories â mostly aneuploidy and still often idiopathic.
J Perinat Med
; 50(7): 985-992, 2022 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405041
3.
Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A).
Stem Cell Res
; 71: 103184, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619442
4.
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.
Mol Genet Genomic Med
; 8(5): e1174, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144894