Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 10
Results: 10
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
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- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.
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- Human Genetics, 2016, v. 135, n. 10, p. 1181, doi. 10.1007/s00439-016-1701-7
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Nonrecurrent PMP22- RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
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- Human Genetics, 2016, v. 135, n. 10, p. 1161, doi. 10.1007/s00439-016-1703-5
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Genetic alterations of δ-catenin/NPRAP/Neurojungin ( CTNND2): functional implications in complex human diseases.
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- Human Genetics, 2016, v. 135, n. 10, p. 1107, doi. 10.1007/s00439-016-1705-3
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Immunoglobulin G genotypes and the risk of schizophrenia.
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- Human Genetics, 2016, v. 135, n. 10, p. 1175, doi. 10.1007/s00439-016-1706-2
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A lethal phenotype associated with tissue plasminogen deficiency in humans.
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- Human Genetics, 2016, v. 135, n. 10, p. 1209, doi. 10.1007/s00439-016-1711-5
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Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
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- Human Genetics, 2016, v. 135, n. 10, p. 1191, doi. 10.1007/s00439-016-1722-2
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CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
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- Human Genetics, 2016, v. 135, n. 10, p. 1199, doi. 10.1007/s00439-016-1724-0
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The genetic history of Cochin Jews from India.
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- Human Genetics, 2016, v. 135, n. 10, p. 1127, doi. 10.1007/s00439-016-1698-y
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Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.
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- Human Genetics, 2016, v. 135, n. 10, p. 1145, doi. 10.1007/s00439-016-1707-1
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- Article