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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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Molecular Therapies for Inherited Retinal Diseases
| Molecular Therapies for Inherited Retinal Diseases |
| Autore | Collin Rob W.J |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 online resource (262 p.) |
| Soggetto topico |
Biology, life sciences
Research & information: general |
| Soggetto non controllato |
AAV
ABCA4 adeno-associated viral adeno-associated virus (AAV) allele-specific knockdown antisense oligonucleotides AON-mediated exon skipping apical polarity apoptosis ARPE-19 cells autophagy autosomal dominant bipolar cells CEP290 chaperones chaperonins choroideremia Cilia elongation clathrin-coated vesicles clinical trials clustered regularly interspaced short palindromic repeats (CRISPR) compound therapies cones crumbs complex cyclic GMP DNA therapies DNA-wrapped gold nanoparticles drug delivery systems dual AAV endosomal trafficking Enhanced S-Cone Syndrome (ESCS) fetal retina Flanders founder c.4723A > G56R gapmer antisense oligonucleotides gene augmentation gene therapy gold nanoparticles heat shock response homology-directed repair (HDR) induced pluripotent stem cell (iPSC) inherited retinal disease inherited retinal diseases iPSC-derived photoreceptor precursor cells IRD Leber congenital amaurosis Leber congenital amaurosis and allied retinal ciliopathies microRNA Müller glia n/a necrosis nonprofit NR2E3 PAR complex patient registry photoreceptors protein degradation protein folding protein trafficking putative dominant negative effect REP1 retina retinal degeneration retinal inherited disorders retinal organoids retinal pigment epithelium retinitis pigmentosa Retinitis Pigmentosa (RP) Retinitis Pigmentosa GTPase Regulator retinogenesis RNA therapies RNA therapy rods RPE65 splicing modulation spontaneous nonsense correction Stargardt disease T nonsense mutation therapy translational translational medicine treatment unfolded protein response Usher syndrome |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910674051103321 |
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Collin Rob W.J
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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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