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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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Structure, Activity, and Function of Protein Methyltransferases
| Structure, Activity, and Function of Protein Methyltransferases |
| Autore | Jeltsch Albert |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (292 p.) |
| Soggetto topico |
Biochemistry
Biology, life sciences Research & information: general |
| Soggetto non controllato |
actin
actin cytoskeleton AML arginine methylation cancer cardiovascular disease cell proliferation cell signaling chromatin regulation congenital heart diseases cytoskeleton dendritic spine diabetes disease DNA damage repair dystonia eEF1A EHMT1 EHMT2 enteroviruses enzyme regulation enzyme specificity epigenetics G9a GLP GTPase H3K36 H3K36me2 H3K4me3 H3K9 methylation H3R2me2a H4R3 methylation heterochromatin histone Hsmar1 Huntington's disease immunity inflammation inflammatory bowel disease lysine methylation lysine-specific methyltransferase (PKMT) methyltransferase Metnase METTL13 MLL2 N-terminal methylation n/a neurodegenerative diseases neuron NHEJ non-homologous end joining repair NSD1 NSD3 NUP98-NSD1 oncogenesis PKMT pluripotency polymerization post translational modification post-translational modification post-translational protein modification posttranslational modifications Prader-Willi syndrome PRMT1 PRMT2 PRMT5 PRMT6 PRMT7 protein arginine methylation protein histidine methylation protein lysine methylation protein post-translational modification Rett syndrome schizophrenia SET7/9 SETD3 SETD7 SETDB1 SETMAR SH3 SOTOS stress response structure structure and function synapse transcriptional regulation translation transposable elements transposase WHSC1L1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479603321 |
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Jeltsch Albert
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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