Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 7
Results: 16
Cover Image, Volume 39, Issue 7.
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- Human Mutation, 2018, v. 39, n. 7, p. i, doi. 10.1002/humu.23558
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Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus.
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- Human Mutation, 2018, v. 39, n. 7, p. 965, doi. 10.1002/humu.23547
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Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
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- Human Mutation, 2018, v. 39, n. 7, p. 959, doi. 10.1002/humu.23546
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Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next‐generation sequencing.
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- Human Mutation, 2018, v. 39, n. 7, p. 925, doi. 10.1002/humu.23543
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MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases.
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- Human Mutation, 2018, v. 39, n. 7, p. 914, doi. 10.1002/humu.23542
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De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
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- Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
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Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst.
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- Human Mutation, 2018, v. 39, n. 7, p. 934, doi. 10.1002/humu.23534
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Insight into vitamin B<sub>6</sub>‐dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
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- Human Mutation, 2018, v. 39, n. 7, p. 1002, doi. 10.1002/humu.23540
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Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
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- Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
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- Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537
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Novel CASK mutations in cases with syndromic microcephaly.
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- Human Mutation, 2018, v. 39, n. 7, p. 993, doi. 10.1002/humu.23536
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NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes.
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- Human Mutation, 2018, v. 39, n. 7, p. 954, doi. 10.1002/humu.23535
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Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
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- Human Mutation, 2018, v. 39, n. 7, p. 983, doi. 10.1002/humu.23539
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Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
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- Human Mutation, 2018, v. 39, n. 7, p. 970, doi. 10.1002/humu.23531
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MERTK mutation update in inherited retinal diseases.
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- Human Mutation, 2018, v. 39, n. 7, p. 887, doi. 10.1002/humu.23431
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Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 883, doi. 10.1002/humu.23328
- Publication type:
- Article