Search details
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.
Article
in English
| MEDLINE | ID: mdl-33958710
2.
Bardet-Biedl syndrome and related disorders in Japan.
J Hum Genet
; 65(10): 847-853, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32451492
3.
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Epilepsia
; 53(8): 1441-9, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22709267
4.
Characteristics of sleep-disordered breathing in children with down syndrome - A comparison with typically developing children.
Sleep Med X
; 4: 100045, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-35495734
5.
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
J Hum Genet
; 55(12): 801-9, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20882035
6.
A pediatric case of critical illness polyneuropathy: clinical and pathological findings.
Brain Dev
; 27(7): 535-8, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16198212
7.
Forty-two-day-old boy with acute idiopathic thrombocytopenic purpura.
Pediatr Int
; 52(3): 485-7, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20723123
8.
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia.
Pediatr Radiol
; 38(10): 1105-8, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18521588
9.
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
J Pediatr
; 148(3): 410-4, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16615981
10.
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
J Hum Genet
; 50(7): 347-352, 2005.
Article
in English
| MEDLINE | ID: mdl-16021330
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