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Cover Image, Volume 39, Issue 5.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. i, doi. 10.1002/humu.23432
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- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 589, doi. 10.1002/humu.23326
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- Article
Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.
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- Human Mutation, 2018, v. 39, n. 5, p. 593, doi. 10.1002/humu.23406
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- Article
A mutation update on the LDS‐associated genes <italic>TGFB2/3</italic> and <italic>SMAD2/3</italic>.
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- Human Mutation, 2018, v. 39, n. 5, p. 621, doi. 10.1002/humu.23407
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- Article
Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser.
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- Human Mutation, 2018, v. 39, n. 5, p. 635, doi. 10.1002/humu.23412
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- Article
Text‐mined phenotype annotation and vector‐based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.
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- Human Mutation, 2018, v. 39, n. 5, p. 643, doi. 10.1002/humu.23413
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- Article
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
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- Human Mutation, 2018, v. 39, n. 5, p. 653, doi. 10.1002/humu.23403
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- Article
Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.
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- Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
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- Article
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 676, doi. 10.1002/humu.23401
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- Article
Mitogenomic differences between the normal and tumor cells of colorectal cancer patients.
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- Human Mutation, 2018, v. 39, n. 5, p. 691, doi. 10.1002/humu.23402
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- Article
Secretion of wild‐type factor IX upon readthrough over <italic>F9</italic> pre‐peptide nonsense mutations causing hemophilia B.
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- Human Mutation, 2018, v. 39, n. 5, p. 702, doi. 10.1002/humu.23404
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- Article
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
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- Human Mutation, 2018, v. 39, n. 5, p. 709, doi. 10.1002/humu.23408
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- Article
MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
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- Human Mutation, 2018, v. 39, n. 5, p. 717, doi. 10.1002/humu.23409
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- Article
The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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- Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411
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- Article
A functional polymorphism in the <italic>pre‐miR‐146a</italic> gene is associated with the risk of nonsyndromic orofacial cleft.
- Published in:
- Human Mutation, 2018, v. 39, n. 5, p. 742, doi. 10.1002/humu.23415
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- Article