Found: 9
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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2177, doi. 10.1093/hmg/ddt070
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- Article
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0649-3
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- Article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
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- Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
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- Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
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- Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
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- Article
Variants in nuclear factor I genes influence growth and development.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 611, doi. 10.1002/ajmg.c.31747
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- Article
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
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- Article
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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- Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
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- Article