Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 10
Results: 10
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research setting.
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- Human Genetics, 2020, v. 139, n. 10, p. 1197, doi. 10.1007/s00439-020-02199-3
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
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- Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
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- Human Genetics, 2020, v. 139, n. 10, p. 1315, doi. 10.1007/s00439-020-02174-y
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Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
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- Human Genetics, 2020, v. 139, n. 10, p. 1299, doi. 10.1007/s00439-020-02172-0
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SZDB2.0: an updated comprehensive resource for schizophrenia research.
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- Human Genetics, 2020, v. 139, n. 10, p. 1285, doi. 10.1007/s00439-020-02171-1
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- Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
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- Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
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Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.
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- Human Genetics, 2020, v. 139, n. 10, p. 1261, doi. 10.1007/s00439-020-02169-9
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AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
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- Human Genetics, 2020, v. 139, n. 10, p. 1247, doi. 10.1007/s00439-020-02168-w
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- Article
Systematic microsatellite repeat expansion cloning and validation.
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- Human Genetics, 2020, v. 139, n. 10, p. 1233, doi. 10.1007/s00439-020-02165-z
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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
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- Human Genetics, 2020, v. 139, n. 10, p. 1209, doi. 10.1007/s00439-020-02164-0
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- Article