Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 2
Results: 14
Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 164, doi. 10.1111/cge.14170
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
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Further validation of the Perceptions of Uncertainties in Genome Sequencing scale among patients with cancer undergoing tumor sequencing.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 110, doi. 10.1111/cge.14169
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A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 123, doi. 10.1111/cge.14143
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Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
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- Clinical Genetics, 2022, v. 102, n. 2, p. 155, doi. 10.1111/cge.14142
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A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 149, doi. 10.1111/cge.14164
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Further evidence for distinct traits associated with RBM10 missense variants.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 161, doi. 10.1111/cge.14163
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Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 142, doi. 10.1111/cge.14150
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Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 130, doi. 10.1111/cge.14146
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Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 136, doi. 10.1111/cge.14149
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Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 87, doi. 10.1111/cge.14148
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Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 157, doi. 10.1111/cge.14145
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Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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Issue Information.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 85, doi. 10.1111/cge.13988
- Publication type:
- Article