Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 2
Results: 19
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 254, doi. 10.1111/cge.14253
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Recurrent missense variants in clonal hematopoiesis‐related genes present in the general population.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 247, doi. 10.1111/cge.14259
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Novel CNNM4 variant and clinical features of Jalili syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 256, doi. 10.1111/cge.14258
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Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 190, doi. 10.1111/cge.14257
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The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 179, doi. 10.1111/cge.14255
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PIK3CA somatic mutations as potential biomarker for immunotherapy in elder or TP53 mutated gastric cancer patients.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 200, doi. 10.1111/cge.14260
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De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 242, doi. 10.1111/cge.14250
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Six case reports of NTHL1‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 231, doi. 10.1111/cge.14242
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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247
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Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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Immunotherapy responsive neuroinflammation in a child with FAS‐associated death‐domain mutation.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 252, doi. 10.1111/cge.14246
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A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 146, doi. 10.1111/cge.14243
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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249
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The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
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A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 219, doi. 10.1111/cge.14238
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A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 214, doi. 10.1111/cge.14235
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Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 209, doi. 10.1111/cge.14233
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Risk of genetic and epigenetic alteration in children conceived following ART: Is it time to return to nature whenever possible?
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- Clinical Genetics, 2023, v. 103, n. 2, p. 133, doi. 10.1111/cge.14232
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Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 131, doi. 10.1111/cge.14152
- Publication type:
- Article