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Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
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- Human Mutation, 2018, v. 39, n. 9, p. 1238, doi. 10.1002/humu.23566
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- Article
Back Cover, Volume 39, Issue 9.
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- Human Mutation, 2018, v. 39, n. 9, p. ii, doi. 10.1002/humu.23618
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- Article
Cover Image, Volume 39, Issue 9.
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- Human Mutation, 2018, v. 39, n. 9, p. i, doi. 10.1002/humu.23600
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
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- Human Mutation, 2018, v. 39, n. 9, p. 1155, doi. 10.1002/humu.23583
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Erratum.
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- Human Mutation, 2018, v. 39, n. 9, p. 1299, doi. 10.1002/humu.23582
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- Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
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- Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
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Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.
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- Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580
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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
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- Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567
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- Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
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- Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
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Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
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- Human Mutation, 2018, v. 39, n. 9, p. 1214, doi. 10.1002/humu.23564
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Further delineation of Malan syndrome.
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- Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563
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Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency.
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- Human Mutation, 2018, v. 39, n. 9, p. 1203, doi. 10.1002/humu.23562
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- Article
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
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- Human Mutation, 2018, v. 39, n. 9, p. 1193, doi. 10.1002/humu.23561
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- Article
Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.
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- Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560
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- Article
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.
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- Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559
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- Article
Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1151, doi. 10.1002/humu.23330
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- Article