Detalhe da pesquisa
1.
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
J Hum Genet
; 66(2): 215-218, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764695
2.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
3.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Eur J Med Genet
; 58(1): 39-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25220016
4.
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Pediatr Neurol
; 51(6): 806-813.e8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25456301
5.
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Neuron
; 84(6): 1226-39, 2014 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25521378
6.
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
Neuron
; 85(1): 228, 2015 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654772