Detalhe da pesquisa
1.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34234304
2.
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Prenat Diagn
; 22(11): 1048-50, 2002 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-12424774