Found: 12
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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
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- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
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- Article
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
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- Journal of Human Genetics, 2004, v. 49, n. 6, p. 308, doi. 10.1007/s10038-004-0145-4
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- Article
Aberrant CBFA2T3B gene promoter methylation in breast tumors.
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- Molecular Cancer, 2004, v. 3, p. 22, doi. 10.1186/1476-4598-3-22
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- Article
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
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- Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
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- Article
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
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- Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
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- Article
Missense variant contribution to USP9X-female syndrome.
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- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
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- Article
Eat Your Vegetables.
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- Oncology (08909091), 2012, v. 26, n. 6, p. 385
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- Article
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
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- Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237
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- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
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- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Article
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
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- 2019
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- Correction Notice
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
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- 2019
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- Correction Notice
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0073-4
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- Publication type:
- Article