Found: 9
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A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 32, doi. 10.1186/1750-1172-6-32
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- Article
Genome-wide UPD screening in patients with intellectual disability.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1233, doi. 10.1038/ejhg.2014.63
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- Article
Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3: In Vivo Evidence.
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- Journal of Neuroscience, 2007, v. 27, n. 28, p. 7418, doi. 10.1523/JNEUROSCI.4540-06.2007
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- Article
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
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- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01332
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- Article
A rapid microarray based whole genome analysis for detection of uniparental disomy.
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- Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198
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- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
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- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
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- Article
Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein.
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- Neurogenetics, 2007, v. 8, n. 2, p. 71, doi. 10.1007/s10048-007-0079-z
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- Article
UPDtool: a tool for detection of iso- and heterodisomy in parent–child trios using SNP microarrays.
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- Bioinformatics, 2013, v. 29, n. 12, p. 1562, doi. 10.1093/bioinformatics/btt174
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- Article
Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.
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- Proteomics - Clinical Applications, 2008, v. 2, n. 5, p. 720, doi. 10.1002/prca.200780053
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- Article