Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 5
Results: 22
Front Cover, Volume 41, Issue 5.
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- Human Mutation, 2020, v. 41, n. 5, p. i, doi. 10.1002/humu.24023
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ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
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- Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity.
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- Human Mutation, 2020, v. 41, n. 5, p. 1075, doi. 10.1002/humu.24003
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The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis.
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- Human Mutation, 2020, v. 41, n. 5, p. 865, doi. 10.1002/humu.24002
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Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
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- Human Mutation, 2020, v. 41, n. 5, p. 1069, doi. 10.1002/humu.24000
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Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
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- Human Mutation, 2020, v. 41, n. 5, p. 1072, doi. 10.1002/humu.23999
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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
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- Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
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FANCL gene mutations in premature ovarian insufficiency.
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- Human Mutation, 2020, v. 41, n. 5, p. 1033, doi. 10.1002/humu.23997
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Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
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- Human Mutation, 2020, v. 41, n. 5, p. 1025, doi. 10.1002/humu.23996
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Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
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- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility.
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- Human Mutation, 2020, v. 41, n. 5, p. 998, doi. 10.1002/humu.23993
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
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- Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
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De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling.
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- Human Mutation, 2020, v. 41, n. 5, p. 1012, doi. 10.1002/humu.23990
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Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
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- Human Mutation, 2020, v. 41, n. 5, p. 983, doi. 10.1002/humu.23988
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Single‐molecule detection of cancer mutations using a novel PCR‐LDR‐qPCR assay.
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- Human Mutation, 2020, v. 41, n. 5, p. 1051, doi. 10.1002/humu.23987
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Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
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- Human Mutation, 2020, v. 41, n. 5, p. 973, doi. 10.1002/humu.23986
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Mutations in FASTKD2 are associated with mitochondrial disease with multi‐OXPHOS deficiency.
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- Human Mutation, 2020, v. 41, n. 5, p. 961, doi. 10.1002/humu.23985
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POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
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- Human Mutation, 2020, v. 41, n. 5, p. 913, doi. 10.1002/humu.23984
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Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
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- Human Mutation, 2020, v. 41, n. 5, p. 906, doi. 10.1002/humu.23980
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A protein‐centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomes.
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- Human Mutation, 2020, v. 41, n. 5, p. 934, doi. 10.1002/humu.23979
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Issue Information.
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- Human Mutation, 2020, v. 41, n. 5, p. 861, doi. 10.1002/humu.23809
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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
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- Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
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