Detalhe da pesquisa
1.
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.
JIMD Rep
; 45: 51-55, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311141
2.
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
JCI Insight
; 2(16)2017 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814660
3.
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Eur J Hum Genet
; 22(1): 105-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23695283