Detalhe da pesquisa
1.
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Clin Genet
; 104(1): 114-120, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36951206
2.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31273809
3.
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Genes (Basel)
; 15(2)2024 02 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38397214
4.
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
Eur J Med Genet
; 65(6): 104495, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35427807