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1.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33644862
2.
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
Blood Cells Mol Dis
; 59: 140-7, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27241455
3.
[Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report].
No To Hattatsu
; 47(6): 449-53, 2015 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-26717647
4.
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
J Neurol Sci
; 443: 120498, 2022 12 15.
Article
in English
| MEDLINE | ID: mdl-36417806
5.
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain Dev
; 43(9): 945-951, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34092405
6.
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Mol Genet Genomic Med
; 8(3): e1145, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31953910
7.
POLR3A variants in striatal involvement without diffuse hypomyelination.
Brain Dev
; 42(4): 363-368, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31932101
8.
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Brain Dev
; 38(3): 337-40, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26421802
9.
Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.
Pediatr Neurol
; 62: 51-7, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27400822
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