Detalhe da pesquisa
1.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529819
2.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Genes (Basel)
; 13(12)2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553625