Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 5
Results: 17
Featured Cover.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 1, doi. 10.1111/cge.14528
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Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 581, doi. 10.1111/cge.14511
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ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 470, doi. 10.1111/cge.14506
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Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 459, doi. 10.1111/cge.14503
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The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 573, doi. 10.1111/cge.14496
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Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 567, doi. 10.1111/cge.14494
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Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 533, doi. 10.1111/cge.14488
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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 523, doi. 10.1111/cge.14487
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Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479
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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 561, doi. 10.1111/cge.14486
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Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 549, doi. 10.1111/cge.14484
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Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 543, doi. 10.1111/cge.14483
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
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Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 499, doi. 10.1111/cge.14480
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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 457, doi. 10.1111/cge.14370
- Publication type:
- Article