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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 online resource (144 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
ACTG1
Altaians ataxia bioinformatics child clinical genetics DFNA5 DFNB4 dystonia early onset ataxia familial hearing loss genetic counselling genetic diagnosis genetic testing growth hormone deficiency GSDME hearing loss HMG-CoA lyase deficiency HMGCL HMGLD imprinting disorder inborn errors of metabolism inherited metabolic diseases inherited retinal diseases insulin-like growth factor 1 lysosomal disorders mosaicism multiple diagnoses MYH9 n/a network analysis neurodevelopment neuromuscular disease next generation sequencing NGS non-syndromic hearing loss phenotype pituitary microadenoma Prader-Willi syndrome professional recognition rare diseases recombinant human growth hormone retina ring chromosomes Russia single-exon CNV SLC26A4 Southern Siberia syndrome Turner syndrome Tuvinians whole exome sequencing |
| 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 online resource (172 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
cancer
capmatinib chemoprevention clinical genetics COX-2 inhibitor CRISPR/Cas9 doxorubicin genetically engineered mouse models genomics heterogeneity kinase kinome adaptation kinome reprogramming latent variables machine learning malignancy malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumors mebendazole (MBZ) MEK MET metaVIPER mouse models MPNST nerve sheath tumor nerve sheath tumors neurofibromatosis neurofibromatosis 1 (NF1) neurofibromatosis type 1 neurofibromatosis type 1 syndrome neurofibromin 1 next generation sequencing NF1 pathology plexiform neurofibromas polycomb repressive complex PRC2 random forest sarcoma Schwann cells supervised learning tram transfer learning tumor deconvolution tumor evolution tumor microenvironment |
| 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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