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Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.
- Published in:
- Journal of Gene Medicine, 2021, v. 23, n. 4, p. 1, doi. 10.1002/jgm.3322
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- Article
Comparative analysis of genome-scale, base-resolution DNA methylation profiles across 580 animal species.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-34828-y
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- Article
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
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- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 159, doi. 10.1007/s13760-016-0721-3
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- Article
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
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- Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 19, doi. 10.24953/turkjped.2020.01.003
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- Article
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 3, p. 229, doi. 10.24953/turkjped.2018.03.001
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- Article
Identifying disease-causing mutations with privacy protection.
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- Bioinformatics, 2020, v. 36, n. 21, p. 5205, doi. 10.1093/bioinformatics/btaa641
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- Article
Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23445-w
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- Article
Radiomic features define risk and are linked to DNA methylation attributes in primary CNS lymphoma.
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- Neuro-Oncology Advances, 2023, v. 5, n. 1, p. 1, doi. 10.1093/noajnl/vdad136
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- Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 291, doi. 10.1002/ajmg.a.36248
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- Article
Buffy coat signatures of breast cancer risk in a prospective cohort study.
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- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01509-6
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- Article