Detalhe da pesquisa
1.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
2.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620954