Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia.
JIMD Rep
; 59(1): 10-15, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977024