Found: 12
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Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01807-9
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- Article
A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
- Published in:
- 2024
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- Publication type:
- Case Study
MECP2-gén-duplikáció gyermekkori és praenatalis diagnózisa.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 1, p. 30, doi. 10.1556/650.2024.32956
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- Article
Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10745, doi. 10.3390/ijms241310745
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- Publication type:
- Article
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7401, doi. 10.3390/ijms24087401
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- Publication type:
- Article
Likely Pathogenic Variants of Ca v 1.3 and Na v 1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways.
- Published in:
- Biomedicines, 2023, v. 11, n. 3, p. 933, doi. 10.3390/biomedicines11030933
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- Article
Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209080
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- Publication type:
- Article
The Expression of Checkpoint and DNA Repair Genes in Head and Neck Cancer as Possible Predictive Factors.
- Published in:
- Pathology & Oncology Research, 2017, v. 23, n. 2, p. 253, doi. 10.1007/s12253-016-0088-z
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- Publication type:
- Article
Role of the Deubiquitylating Enzyme DmUsp5 in Coupling Ubiquitin Equilibrium to Development and Apoptosis in Drosophila melanogaster.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120875
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- Publication type:
- Article
A novel interplay between the ubiquitin-proteasome system and serine proteases during Drosophila development.
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- Biochemical Journal, 2013, v. 454, n. 3, p. 571, doi. 10.1042/BJ20130040
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- Publication type:
- Article
Overexpression of Dsk2/dUbqln results in severe developmental defects and lethality in Drosophila melanogaster that can be rescued by overexpression of the p54/Rpn10/S5a proteasomal subunit.
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- FEBS Journal, 2011, v. 278, n. 24, p. 4833, doi. 10.1111/j.1742-4658.2011.08383.x
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- Publication type:
- Article
Molecular characterization of the Rpt1/p48B ATPase subunit of the Drosophila melanogaster 26S proteasome.
- Published in:
- Molecular Genetics & Genomics, 2007, v. 278, n. 1, p. 17
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- Publication type:
- Article