Detalhe da pesquisa
1.
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
N Engl J Med
; 378(11): 1018-1028, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29539279
2.
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Epilepsia
; 59(10): 1867-1880, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178479
3.
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
J Hum Genet
; 62(11): 945-948, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28680109
4.
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
Am J Med Genet A
; 164A(2): 415-20, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311364
5.
Cefazolin therapy for methicillin-susceptible Staphylococcus aureus bacteremia in Japan.
J Infect Chemother
; 20(3): 175-80, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462449
6.
Turner syndrome with idiopathic thrombocytopenic purpura in childhood.
Pediatr Int
; 61(10): 1057-1058, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663242
7.
Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment.
Neurobiol Dis
; 49: 29-40, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22986304
8.
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
Am J Med Genet A
; 161A(4): 850-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494922
9.
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
Am J Med Genet A
; 161A(7): 1779-85, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23704079
10.
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
Am J Med Genet A
; 161A(8): 2078-83, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23825006
11.
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
Am J Med Genet A
; 161A(12): 3049-56, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039031
12.
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Nat Genet
; 36(8): 842-9, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15258581
13.
[Pre-evening meal administration of tacrolimus improved refractory ocular symptoms in two young children with latent general myasthenia gravis].
No To Hattatsu
; 45(4): 318-22, 2013 Jul.
Artigo
em Japonês
| MEDLINE | ID: mdl-23951946
14.
Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.
SAGE Open Med Case Rep
; 11: 2050313X231181836, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377459
15.
Post-transcriptional regulation of fukutin in an astrocytoma cell line.
Int J Exp Pathol
; 93(1): 46-55, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264285
16.
Atomoxetine improves communication in a girl with semantic-pragmatic disorder.
Pediatr Int
; 54(4): 546-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22830544
17.
[A case of spinal muscular atrophy type 0 in Japan].
No To Hattatsu
; 44(5): 387-91, 2012 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-23012868
18.
[A child with paroxysmal exertion-induced dyskinesia].
No To Hattatsu
; 44(3): 244-8, 2012 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-22712229
19.
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Sci Rep
; 12(1): 6505, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581205
20.
Newborn screening for Pompe disease in Japan.
Mol Genet Metab
; 104(4): 560-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963784