Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 3
Results: 15
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction.
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- Human Genetics, 2024, v. 143, n. 3, p. 401, doi. 10.1007/s00439-024-02659-0
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- Article
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing.
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- Human Genetics, 2024, v. 143, n. 3, p. 371, doi. 10.1007/s00439-024-02658-1
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
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- Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2
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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
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- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
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- Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4
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Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer.
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- Human Genetics, 2024, v. 143, n. 3, p. 385, doi. 10.1007/s00439-024-02653-6
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- Article
Clinical and genetic architecture of a large cohort with auditory neuropathy.
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- Human Genetics, 2024, v. 143, n. 3, p. 293, doi. 10.1007/s00439-024-02652-7
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- Article
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.
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- Human Genetics, 2024, v. 143, n. 3, p. 357, doi. 10.1007/s00439-024-02650-9
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- Article
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
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- Human Genetics, 2024, v. 143, n. 3, p. 311, doi. 10.1007/s00439-024-02649-2
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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.
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- Human Genetics, 2024, v. 143, n. 3, p. 263, doi. 10.1007/s00439-024-02647-4
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STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation.
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- Human Genetics, 2024, v. 143, n. 3, p. 343, doi. 10.1007/s00439-024-02646-5
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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.
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- Human Genetics, 2024, v. 143, n. 3, p. 331, doi. 10.1007/s00439-024-02645-6
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- Article
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37.
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- Human Genetics, 2024, v. 143, n. 3, p. 211, doi. 10.1007/s00439-024-02644-7
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.
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- Human Genetics, 2024, v. 143, n. 3, p. 423, doi. 10.1007/s00439-024-02643-8
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The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.
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- Human Genetics, 2024, v. 143, n. 3, p. 233, doi. 10.1007/s00439-024-02642-9
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- Article