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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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Neuromuscular Disorders in Children and Adolescents
| Neuromuscular Disorders in Children and Adolescents |
| Autore | Korinthenberg Rudolf |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (146 p.) |
| Soggetto topico |
Medicine and Nursing
Neurology and clinical neurophysiology |
| Soggetto non controllato |
3-hydroxy-3-methylglutaryl
adolescents AMC brachial plexus neuritis carpal tunnel syndrome carrier frequency chaperone-assisted autophagy Charcot-Marie-Tooth disease child neurology children clinical course clinical trials coenzyme A reductase contractures distal arthrogryposis Duchenne muscular dystrophy ECEL1 electrodiagnostic studies fine manual dexterity GAA gene general population database genetic prevalence hereditary sensory and motor neuropathy inflammatory neuropathy juvenile myositis kyphosis median nerve neuropathy metabolic neuropathy mucopolysaccharidosis muscle muscle MRI n/a neuromuscular neuromuscular disease neuromuscular ultrasound neuropathy nusinersen paralysis patient-reported outcomes pediatrics Pompe disease posterior spinal fusion public health surveillance quality of life sagittal plane deformity signal recognition particle spinal muscular atrophy spinal muscular atrophy (SMA) therapy traumatic neuropathy ultrasonographic elastography vaccination |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566465903321 |
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Korinthenberg Rudolf
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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