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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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Psychosocial Considerations for Children and Adolescents Living with Rare Diseases
| Psychosocial Considerations for Children and Adolescents Living with Rare Diseases |
| Autore | Wiener Lori |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (204 p.) |
| Soggetto topico | Psychology |
| Soggetto non controllato |
adaptation
adolescents adolescents and young adults advance care planning advocacy age-appropriate AYA transition Beckwith-Wiedemann syndrome bereavement cancer care coordination caregiving childhood cancer children chronic illness cognitive functions communication compassionate communities complex chronic conditions decision-making development E-IMD emotional-behavioral problems emotions end-of-life care equity families family burden family caregiver family caregivers gender differences genetic or rare diseases health outcomes healthcare needs illness perception inherited metabolic diseases interventions life-limiting conditions medical complexity medullary thyroid carcinoma n/a neoplasm oncology palliative care parental need parenting stress parents pediatric pediatric chronic illness pediatric to adult transition pediatrics policy preschool-age children psychological psychomotor development psychosocial psychosocial care psychosocial difficulties psychosocial distress psychosocial support public health approach rare disease rare diseases sibling siblings social adjustment social support special needs transition readiness urea cycle disorders young adults |
| ISBN | 3-0365-5090-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910619466903321 |
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Wiener Lori
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| MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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