Detalhe da pesquisa
1.
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.
J Pediatr Genet
; 9(2): 125-131, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341818
2.
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol
; 266(8): 1919-1926, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069529