Detalhe da pesquisa
1.
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Int J Mol Sci
; 24(6)2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982718
2.
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Int J Mol Sci
; 23(10)2022 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628659
3.
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Genes (Basel)
; 14(8)2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628632
4.
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Hum Genome Var
; 9(1): 26, 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35879281