Found: 15
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Genetic analysis of suicide: a sample study in Tuscany (Central Italy).
- Published in:
- Forensic Sciences Research, 2022, v. 7, n. 4, p. 790, doi. 10.1080/20961790.2020.1835156
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- Publication type:
- Article
Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload.
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor
Extramedullary blastic transformation of primary myelofibrosis in the form of disseminated myeloid sarcoma: a case report and review of the literature.
- Published in:
- Clinical & Experimental Medicine, 2020, v. 20, n. 2, p. 313, doi. 10.1007/s10238-020-00616-5
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- Publication type:
- Article
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 1135, doi. 10.1007/s12311-023-01620-7
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- Publication type:
- Article
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1733
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- Publication type:
- Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24636-1
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- Publication type:
- Article
Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2.
- Published in:
- 2021
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- Publication type:
- Letter
Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 12, p. 1605, doi. 10.1373/clinchem.2019.310805
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- Publication type:
- Article
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.
- Published in:
- 2021
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- Publication type:
- journal article
S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-017-0443-z
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- Publication type:
- Article
Editorial: Unravelling the basis of non-invasive prenatal screening results.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1247764
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- Publication type:
- Article
Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 879, doi. 10.3390/genes15070879
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- Publication type:
- Article
Looking into the Quantification of Forensic Samples with Real-Time PCR.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 759, doi. 10.3390/genes15060759
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- Publication type:
- Article
Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.
- Published in:
- Medicina (1010660X), 2024, v. 60, n. 5, p. 797, doi. 10.3390/medicina60050797
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- Publication type:
- Article
Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data.
- Published in:
- Bioinformatics, 2019, v. 35, n. 21, p. 4213, doi. 10.1093/bioinformatics/btz241
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- Publication type:
- Article