Found: 15
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ALS and CHARGE syndrome: a clinical and genetic study.
- Published in:
- Acta Neurologica Belgica, 2018, v. 118, n. 4, p. 629, doi. 10.1007/s13760-018-1029-2
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- Publication type:
- Article
Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
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- Acta Neurologica Belgica, 2012, v. 112, n. 1, p. 57, doi. 10.1007/s13760-012-0042-0
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- Publication type:
- Article
LC-MALDI-TOF ISD MS analysis is an effective, simple and rapid method of investigation for histones characterization: Application to EBV lymphoblastoid cell lines.
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- Journal of Mass Spectrometry, 2021, v. 56, n. 5, p. 1, doi. 10.1002/jms.4712
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- Publication type:
- Article
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0779-x
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- Publication type:
- Article
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh.
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- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 12, p. e251, doi. 10.1515/cclm-2023-0442
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- Publication type:
- Article
A Blood-Based Molecular Clock for Biological Age Estimation.
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- Cells (2073-4409), 2023, v. 12, n. 1, p. 32, doi. 10.3390/cells12010032
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- Article
Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome.
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- 2008
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- Publication type:
- Letter
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
- Published in:
- Child's Nervous System, 2011, v. 27, n. 4, p. 635, doi. 10.1007/s00381-010-1282-z
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- Publication type:
- Article
Characterizing Fractal Genetic Variation in the Human Genome from the Hapmap Project.
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- International Journal of Neural Systems, 2022, v. 32, n. 6, p. 1, doi. 10.1142/S0129065722500289
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- Publication type:
- Article
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5785, doi. 10.3390/ijms21165785
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- Publication type:
- Article
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.
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- Muscle & Nerve, 2012, v. 45, n. 6, p. 919, doi. 10.1002/mus.23360
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- Publication type:
- Article
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6062, doi. 10.3390/ijms25116062
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- Publication type:
- Article
An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2254, doi. 10.3390/ijms24032254
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- Publication type:
- Article
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 8932, doi. 10.3390/ijms23168932
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- Publication type:
- Article
Thymic function and survival at advance ages in nursing home residents from Southern Italy.
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- Immunity & Ageing, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12979-023-00340-0
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- Publication type:
- Article