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A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Yim, SY | - |
| dc.contributor.author | Jeong, SY | - |
| dc.date.accessioned | 2017-04-27T06:16:03Z | - |
| dc.date.available | 2017-04-27T06:16:03Z | - |
| dc.date.issued | 2015 | - |
| dc.identifier.issn | 1434-5161 | - |
| dc.identifier.uri | http://repository.ajou.ac.kr/handle/201003/13971 | - |
| dc.language.iso | en | - |
| dc.subject.MESH | Epilepsy | - |
| dc.subject.MESH | Female | - |
| dc.subject.MESH | Humans | - |
| dc.subject.MESH | Intellectual Disability | - |
| dc.subject.MESH | Male | - |
| dc.subject.MESH | Muscle Proteins | - |
| dc.subject.MESH | Muscle Weakness | - |
| dc.title | A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | - |
| dc.type | Article | - |
| dc.identifier.pmid | 25589042 | - |
| dc.contributor.affiliatedAuthor | 임, 신영 | - |
| dc.contributor.affiliatedAuthor | 정, 선용 | - |
| dc.type.local | Journal Papers | - |
| dc.identifier.doi | 10.1038/jhg.2014.119 | - |
| dc.citation.title | Journal of human genetics | - |
| dc.citation.volume | 60 | - |
| dc.citation.number | 3 | - |
| dc.citation.date | 2015 | - |
| dc.citation.startPage | 163 | - |
| dc.citation.endPage | 164 | - |
| dc.identifier.bibliographicCitation | Journal of human genetics, 60(3). : 163-164, 2015 | - |
| dc.identifier.eissn | 1435-232X | - |
| dc.relation.journalid | J014345161 | - |
- Appears in Collections:
- Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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