Found: 7
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Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
- Published in:
- Journal of Gene Medicine, 2024, v. 26, n. 1, p. 1, doi. 10.1002/jgm.3601
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- Article
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
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- Neurogenetics, 2022, v. 23, n. 3, p. 203, doi. 10.1007/s10048-022-00692-7
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- Article
Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain.
- Published in:
- Immunogenetics, 2023, v. 75, n. 2, p. 71, doi. 10.1007/s00251-022-01278-1
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- Article
Mobile Assisted Language Learning: Evaluation of Accessibility, Adoption, and Perceived Outcome among Students of Higher Education.
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- Electronics (2079-9292), 2022, v. 11, n. 7, p. 1113, doi. 10.3390/electronics11071113
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- Article
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04451-x
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- Article
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 106, doi. 10.1111/cge.14444
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- Article
Trisk 95 as a novel skin mirror for normal and diabetic systemic glucose level.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68972-6
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- Article