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Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill
| Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (94 p.) |
| Disciplina | 612.8 |
| Soggetto topico | Neurogenetics |
| Soggetto non controllato |
polymicrogyria
neurodegenerative disease next generation sequencing (NGS) inborn error of metabolism genetic biomarker deep learning TUBA1A Alzheimer's disease (AD) ataxia risk prediction p.(Arg2His) movement science tubulin R2H diagnosis machine learning metal storage disorders amyotrophic lateral sclerosis (ALS) glucocerebrosidase Parkinsonism cerebellar hypoplasia Gaucher disease disease phenotyping tubulinopathy Parkinson's disease (PD) dementia Parkinson's disease |
| ISBN | 3-03921-611-2 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Diagnosis of Neurogenetic Disorders |
| Record Nr. | UNINA-9910367751303321 |
| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Molecular Basis of Inherited Diseases in Companion Animals
| Molecular Basis of Inherited Diseases in Companion Animals |
| Autore | Bannasch Danika |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (232 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
Canis familiaris
dermatology immunology animal model skin TLR7 toll-like receptor syndecan binding protein syntenin-1 systemic lupus erythematosus SLE CLE whole-genome sequencing craniomandibular osteopathy calvarial hyperostotic syndrome Caffey disease infantile cortical hyperostosis rare disease SLC37A2 COL1A1 SLC35D1 Canis lupus familiaris whole-genome sequence genodermatosis keratinocyte SAM syndrome precision medicine dog desmosome acantholysis calcium veterinary medicine feline Felis catus brain malformation BMP12 neurodevelopment genetics genomics mendelian traits genome-wide association study whole genome sequencing mitochondrion phosphoenolpyruvate-carboxykinase inborn error of metabolism encephalopathy SSADHD ALDH5A1 GABA 4-hydroxybutyric acid succinic semialdehyde GWAS inherited whole genome sequence wgs laminin Bardet-Biedl syndrome (BBS) primary cilia ciliopathy BBS8 progressive retinal atrophy (PRA) retinitis pigmentosa canine dystrophinopathy Duchenne immunohistochemistry neurometabolic disorder CHILD syndrome ILVEN epidermal nevus diabetes mellitus Burmese cats susceptibility single-nucleotide polymorphism genetic markers LIPH obesity companion animals metabolic disease comparative genomics dogs cats horses contactin neurological disorder Leonberger Saint Bernard Labrador retriever |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557141403321 |
Bannasch Danika
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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