Detalhe da pesquisa
1.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35108495
2.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
JIMD Rep
; 26: 31-6, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26238251