Detalhe da pesquisa
1.
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
J Pediatr
; 265: 113841, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995928
2.
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Eur J Hum Genet
; 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789084