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1.
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
BMC Pediatr
; 24(1): 308, 2024 May 06.
Article
in English
| MEDLINE | ID: mdl-38711055
2.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33131168
3.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30471716
4.
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Brain
; 142(3): 560-573, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30715177
5.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30842224
6.
Development of a simple driving simulator and determination of the reference range of normative performance.
Brain Inj
; 32(5): 644-651, 2018.
Article
in English
| MEDLINE | ID: mdl-29388857
7.
Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human ß-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease.
Molecules
; 23(4)2018 04 17.
Article
in English
| MEDLINE | ID: mdl-29673163
8.
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.
Acta Derm Venereol
; 100(17): adv00285, 2020 Oct 06.
Article
in English
| MEDLINE | ID: mdl-32965503
9.
Effects of low-dose milnacipran on event-related potentials and neuropsychological tests in persons with traumatic brain injury: A preliminary study.
Brain Inj
; 29(10): 1252-1257, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26083047
10.
Did the educational campaign to support persons with cognitive dysfunction encourage them to participate in society in Northern Kyushu, Japan?
Brain Inj
; 27(12): 1423-7, 2013.
Article
in English
| MEDLINE | ID: mdl-23924385
11.
First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing.
Brain Dev
; 45(1): 70-76, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36150977
12.
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.
Yonago Acta Med
; 66(4): 463-466, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-38028263
13.
Phase Lag Analysis Scalp Electroencephalography May Predict Seizure Frequencies in Patients with Childhood Epilepsy with Centrotemporal Spikes.
Yonago Acta Med
; 66(1): 48-55, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36820294
14.
Failure to paint the left quarter of a watercolor and no error in a line drawing: a case report of an art teacher with unilateral spatial neglect.
Neurocase
; 18(3): 212-6, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-21936640
15.
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
Hum Genome Var
; 9(1): 14, 2022 May 17.
Article
in English
| MEDLINE | ID: mdl-35581197
16.
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Brain Dev
; 44(1): 68-72, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34332824
17.
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
Brain Dev
; 44(10): 732-736, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-35907674
18.
Impaired neuronal integrity in traumatic brain injury detected by 123I-iomazenil single photon emission computed tomography and MRI.
J Cereb Blood Flow Metab
; 42(12): 2245-2254, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35796498
19.
Clinical Characteristics of Fragile X Syndrome Patients in Japan.
Yonago Acta Med
; 64(1): 30-33, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33642901
20.
Progressive cerebral atrophies in three children with COL4A1 mutations.
Brain Dev
; 43(10): 1033-1038, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34281745