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Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
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- Article
Rasd1 interacts with Ear2 (Nr2f6) to regulate renin transcription.
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- BMC Molecular Biology, 2011, v. 12, n. 1, p. 4, doi. 10.1186/1471-2199-12-4
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- Article
Mouse imprinting defect mutations that model Angelman syndrome.
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- Genesis: The Journal of Genetics & Development, 2006, v. 44, n. 1, p. 12
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- Article
Rasd1 Modulates the Coactivator Function of NonO in the Cyclic AMP Pathway.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024401
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- Article
Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 457, doi. 10.1111/j.1749-6632.1999.tb08609.x
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- Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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- Article
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1228, doi. 10.1038/ejhg.2010.95
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- Article
Genetic Studies of Prader-Willi Patients Provide Evidence for Conservation of Genomic Architecture in Proximal Chromosome 15q.
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- Annals of Human Genetics, 2011, v. 75, n. 2, p. 211, doi. 10.1111/j.1469-1809.2010.00633.x
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- Article
Evidence for translational regulation of the imprinted Snurf–Snrpn locus in mice.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 14, p. 1659, doi. 10.1093/hmg/11.14.1659
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- Article
UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.
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- Pigment Cell & Melanoma Research, 2011, v. 24, n. 5, p. 944, doi. 10.1111/j.1755-148X.2011.00884.x
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- Article