Detalhe da pesquisa
1.
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.
Am J Med Genet A
; 176(3): 699-702, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29341476
2.
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Am J Med Genet A
; 170A(4): 908-17, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26782913
3.
[Hemodynamic activities in children with autism while imitating emotional facial expressions: a near-infrared spectroscopy study].
No To Hattatsu
; 46(4): 281-6, 2014 Jul.
Artigo
Japonês
| MEDLINE | ID: mdl-25154225
4.
A female case of L1 syndrome that may have developed due to skewed X inactivation.
Brain Dev
; 46(6): 230-233, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38480026
5.
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.
Brain Dev
; 45(7): 395-400, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-36966012
6.
High-frequency oscillations in idiopathic partial epilepsy of childhood.
Epilepsia
; 52(10): 1812-9, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21762448
7.
Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome.
Brain Dev
; 42(6): 473-476, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32247529
8.
Multi-delay arterial spin labeling brain magnetic resonance imaging study for pediatric autism.
Brain Dev
; 42(4): 315-321, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-32088024
9.
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.
Hum Genome Var
; 7: 21, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32695431
10.
Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
Brain Dev
; 42(8): 594-602, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32505480
11.
[Electrophysiology of intractable childhood epilepsy].
No To Hattatsu
; 46(3): 202-6, 2014 May.
Artigo
Japonês
| MEDLINE | ID: mdl-24902339
12.
A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.
Brain Dev
; 41(10): 888-893, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31353122
13.
Patients with West syndrome whose ictal SPECT showed focal cortical hyperperfusion.
Brain Dev
; 29(4): 202-9, 2007 May.
Artigo
Inglês
| MEDLINE | ID: mdl-17071036
14.
A Proton Magnetic Resonance Spectroscopic Study in Autism Spectrum Disorder Using a 3-Tesla Clinical Magnetic Resonance Imaging (MRI) System: The Anterior Cingulate Cortex and the Left Cerebellum.
J Child Neurol
; 32(8): 731-739, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28420309
15.
Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS).
PLoS One
; 12(1): e0169288, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28060873
16.
Administration of secretin for autism alters dopamine metabolism in the central nervous system.
Brain Dev
; 28(2): 99-103, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16168596
17.
Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome.
Brain Dev
; 38(1): 132-5, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25998967
18.
Long-term follow-up of a patient with subacute sclerosing panencephalitis successfully treated with intrathecal interferon alpha.
Brain Dev
; 27(4): 301-3, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15862195
19.
A case of acute encephalitis with refractory, repetitive partial seizures, presenting autoantibody to glutamate receptor Gluepsilon2.
Brain Dev
; 27(7): 531-4, 2005 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16198211
20.
High-frequency EEG activity in epileptic encephalopathy with suppression-burst.
Brain Dev
; 37(2): 230-6, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24796721