Search details
1.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36083290
2.
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Eur J Med Genet
; 64(4): 104170, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33618039
Results
1 -
2
de 2
1
Next >
>>