Detalhe da pesquisa
1.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet
; 66(11): 1061-1068, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958710
2.
A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy.
No To Hattatsu
; 48(5): 351-4, 2016 09.
Artigo
em Japonês
| MEDLINE | ID: mdl-30010281
3.
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Brain Dev
; 44(2): 161-165, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750010
4.
Plasticity and injury in the developing brain.
Brain Dev
; 31(1): 1-10, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18490122