NOVA. The University of Newcastle's Digital Repository
List View
Showing items 1 - 4 of 4.
Add to Quick Collection All 4 Results
| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| 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 | — | 
|
|
| 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 | — |
|
|
| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation | Molinari, Florence; Foulquier, François; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold... More | 2008 | — |
|
|
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | Tarpey, Patrick S.; Smith, Raffaella; Stephens, Phil; Blow, Matt; Greenman, Chris... More | 2009 | — |
|
Author/Creator
- Futreal, P. Andrew (3)
- Gecz, Jozef (3)
- Stratton, Michael R. (3)
- Tarpey, Patrick S. (3)
- Turner, Gillian (3)
- Hackett, Anna (2)
- Raymond, F. Lucy (2)
- Smith, Raffaella (2)
- Teague, Jon (2)
Keyword
- Angelman syndrome (1)
- DNA (1)
- JARID1C (1)
- JmjC domain (1)
- X-chromosome coding (1)
- X-linked (1)
- X-linked mental retardation (1)
- X-linked mental retardation (XLMR) (1)
- cognitive function development (1)
- disease-causing mutations (1)
