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| Title | Author/Creator | Date | Full Text | Reviewed | |
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| Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation | Rujirabanjerd, Sinitdhorn; Nelson, John; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef... More | 2010 | — | 
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| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation | Molinari, Florence; Foulquier, François; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold... More | 2008 | — |
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| SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome | Gilfillan, Gregor D.; Selmer, Kaja K.; Sjøholm, Hans; Server, Andres; Samuelsson, Lena... More | 2008 | — |
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| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | Froyen, Guy; Corbett, Mark; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans... More | 2008 | — |
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Author/Creator
- Edkins, Sarah (3)
- Gecz, Jozef (3)
- Raymond, F. Lucy (3)
- Tarpey, Patrick S. (3)
- Hackett, Anna (2)
- Schwartz, Charles E. (2)
- Teague, Jon (2)
Keyword
- Angelman syndrome (1)
- DNA (1)
- JARID1C (1)
- JmjC domain (1)
- X-linked (1)
- X-linked mental retardation (1)
- X-linked mental retardation (XLMR) (1)
- cognitive function development (1)
- disease (1)
- genetic etiology (1)
