Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 5
Results: 22
Front Cover.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. i, doi. 10.1111/cge.13758
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A paternally inherited non‐sense variant c.424G>T (p.G142*) in the first exon of XLαs in an adult patient with hypophosphatemia and osteopetrosis.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 712, doi. 10.1111/cge.13734
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Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 704, doi. 10.1111/cge.13729
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Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 779, doi. 10.1111/cge.13725
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Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 696, doi. 10.1111/cge.13723
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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
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New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 688, doi. 10.1111/cge.13721
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Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 758, doi. 10.1111/cge.13719
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Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 747, doi. 10.1111/cge.13715
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An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 741, doi. 10.1111/cge.13712
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The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 795, doi. 10.1111/cge.13711
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First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 793, doi. 10.1111/cge.13708
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Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 770, doi. 10.1111/cge.13704
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Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 787, doi. 10.1111/cge.13693
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Novel EWSR1‐VGLL1 fusion in a pediatric neuroepithelial neoplasm.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 791, doi. 10.1111/cge.13703
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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 731, doi. 10.1111/cge.13701
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Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
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Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 677, doi. 10.1111/cge.13698
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A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 789, doi. 10.1111/cge.13695
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Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 736, doi. 10.1111/cge.13702
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Bivariate genome‐wide association analysis identified three pleiotropic loci underlying osteoporosis and obesity.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 785, doi. 10.1111/cge.13692
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Issue Information.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 675, doi. 10.1111/cge.13571
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- Article