Detalhe da pesquisa
1.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
2.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol
; 259(3): 515-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892769