Detalhe da pesquisa
1.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Fetal Pediatr Pathol
; 41(6): 1041-1051, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821546
2.
Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.
Indian J Pediatr
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38315376