Found: 21
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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 485, doi. 10.3233/JND-230181
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- Article
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
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- Article
EphrinA5 regulates cell motility by modulating Snhg15/DNA triplex-dependent targeting of DNMT1 to the Ncam1 promoter.
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- Epigenetics & Chromatin, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13072-023-00516-4
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- Article
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 835, doi. 10.3233/JND-221668
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- Article
Quality assurance within the context of genome diagnostics (a german perspective).
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- Medizinische Genetik, 2023, v. 35, n. 2, p. 91, doi. 10.1515/medgen-2023-2028
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- Article
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01453-5
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- Article
Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI.
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- Translational Psychiatry, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41398-023-02344-2
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- Article
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 893, doi. 10.3390/genes13050893
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- Publication type:
- Article
Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 408, doi. 10.1111/cge.13819
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- Article
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 418, doi. 10.1111/cge.13820
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- Article
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
- Published in:
- 2020
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- Publication type:
- journal article
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
- Published in:
- 2020
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- Publication type:
- journal article
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12763-9
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- Publication type:
- Article
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4219, doi. 10.3390/ijms20174219
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- Article
Long-read sequencing in human genetics.
- Published in:
- Medizinische Genetik, 2019, v. 31, n. 2, p. 198, doi. 10.1007/s11825-019-0249-z
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- Publication type:
- Article
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
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- 2019
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- Publication type:
- journal article
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0629-x
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- Publication type:
- Article
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1255, doi. 10.1002/mgg3.490
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- Publication type:
- Article
The tumor suppressor ING1b is a novel corepressor for the androgen receptor and induces cellular senescence in prostate cancer cells.
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- Journal of Molecular Cell Biology, 2016, v. 8, n. 3, p. 207, doi. 10.1093/jmcb/mjw007
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- Article
The corepressor activity of Alien is controlled by CREB-binding protein/p300.
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- FEBS Journal, 2013, v. 280, n. 8, p. 1861, doi. 10.1111/febs.12211
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- Publication type:
- Article
Sodium butyrate induces cellular senescence in neuroblastoma and prostate cancer cells.
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- Hormone Molecular Biology & Clinical Investigation, 2011, v. 7, n. 1, p. 265, doi. 10.1515/HMBCI.2011.020
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- Publication type:
- Article