Search details
1.
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain
; 144(4): 1103-1117, 2021 05 07.
Article
in English
| MEDLINE | ID: mdl-33791773
2.
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
J Hum Genet
; 66(7): 697-705, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33510365
3.
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain
; 144(8): e67, 2021 Sep 04.
Article
in English
| MEDLINE | ID: mdl-34037746
4.
A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.
Pediatr Int
; 64(1): e15061, 2022 01.
Article
in English
| MEDLINE | ID: mdl-35510679
5.
Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.
Neurology
; 88(5): 493-500, 2017 01 31.
Article
in English
| MEDLINE | ID: mdl-28039312
6.
Hepatitis C virus infection in inclusion body myositis: A case-control study.
Neurology
; 86(3): 211-7, 2016 Jan 19.
Article
in English
| MEDLINE | ID: mdl-26683644
7.
Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies in a Japanese boy with recurrent optic neuritis.
Brain Dev
; 37(1): 145-8, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24582475
8.
Utility of real-time three-dimensional echocardiography for Duchenne muscular dystrophy with echocardiographic limitations.
Neuromuscul Disord
; 24(5): 402-8, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24444550
9.
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
Neuromuscul Disord
; 22(5): 389-93, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22196155
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