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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Long-term survival in a 69,XXX triploid premature infantAmerican journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1618-1621 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32352 ;PMID: 18478596Full text available |
| 2 |
Material Type: Article
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A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndromeAmerican journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.232-236 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;(c) 2009 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32606 ;PMID: 19161156Full text available |
| 3 |
Material Type: Article
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Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literatureAmerican journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.911-914 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33899 ;PMID: 21595005Full text available |
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Subject
- Neurology (2)
- Nervous System (2)
- Headache. Facial Pains. Syncopes. Epilepsia. Intracranial Hypertension. Brain Oedema. Cerebral Palsy (2)
- Age Of Onset (1)
- 47,xxy Karyotype (1)
- Chromosomes, Human, X - Genetics (1)
- Early-Onset Epileptic Encephalopathy (1)
- Adult And Adolescent Clinical Studies (1)
- Developmental Disabilities (1)
- Adolescent (1)
- Chromosomes, Human, Pair 21 - Genetics (1)
- Cdkl5 (1)
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