Found: 13
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Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2060, doi. 10.3390/ijms22042060
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- Article
A telomerase with novel non-canonical roles: TERT controls cellular aggregation and tissue size in Dictyostelium.
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- PLoS Genetics, 2019, v. 15, n. 6, p. 1, doi. 10.1371/journal.pgen.1008188
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- Article
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
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- Human Genetics, 2023, v. 142, n. 8, p. 1201, doi. 10.1007/s00439-022-02482-5
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- Article
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00173-0
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- Article
Neuronal SNCA transcription during Lewy body formation.
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- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01687-7
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- Article
Single‐Cell Reconstruction of Cellular Heterogeneity of Congenital Heart Disease.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R3237
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- Article
Single Cell Transcriptomic and Genomic Characterization of Brugada Syndrome Associated Genes.
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- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.01506
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- Article
SARS‐CoV‐2 May Hijack GPCR Signaling Pathways to Compromise Lung Ion and Fluid Transport.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.01520
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- Article
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00368-7
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- Article
Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy.
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- Acta Neuropathologica, 2023, v. 146, n. 3, p. 395, doi. 10.1007/s00401-023-02604-x
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- Article
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.
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- Genes, 2022, v. 13, n. 2, p. 207, doi. 10.3390/genes13020207
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- Article
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
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- Neurogenetics, 2022, v. 23, n. 2, p. 137, doi. 10.1007/s10048-022-00689-2
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- Article
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48982-w
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- Article