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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
retina
inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader-Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genomics and Models of Nerve Sheath Tumors
| Genomics and Models of Nerve Sheath Tumors |
| Autore | Hirbe Angela C |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (172 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
neurofibromatosis type 1
nerve sheath tumor cancer latent variables machine learning supervised learning transfer learning random forest metaVIPER tumor deconvolution neurofibromatosis malignant peripheral nerve sheath tumor MPNST polycomb repressive complex PRC2 NF1 kinase kinome adaptation kinome reprogramming MET MEK doxorubicin capmatinib tram genomics tumor evolution pathology next generation sequencing clinical genetics malignant peripheral nerve sheath tumors plexiform neurofibromas Schwann cells neurofibromatosis type 1 syndrome neurofibromin 1 genetically engineered mouse models heterogeneity CRISPR/Cas9 mouse models sarcoma tumor microenvironment neurofibromatosis 1 (NF1) mebendazole (MBZ) COX-2 inhibitor malignancy chemoprevention nerve sheath tumors |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557484703321 |
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Hirbe Angela C
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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