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Advancing Genomics for Rare Disease Diagnosis and Therapy Development
| Advancing Genomics for Rare Disease Diagnosis and Therapy Development |
| Autore | Liu Zhichao |
| Pubbl/distr/stampa | Frontiers Media SA, 2020 |
| Descrizione fisica | 1 electronic resource (297 p.) |
| Soggetto topico |
Science: general issues
Pharmacology |
| Soggetto non controllato |
rare dieases
NGS genomics diagnosis drug discovery |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557671603321 |
Liu Zhichao
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| Frontiers Media SA, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Bioinformatics and Machine Learning for Cancer Biology
| Bioinformatics and Machine Learning for Cancer Biology |
| Autore | Wan Shibiao |
| Pubbl/distr/stampa | Basel, : MDPI Books, 2022 |
| Descrizione fisica | 1 electronic resource (196 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
tumor mutational burden
DNA damage repair genes immunotherapy biomarker biomedical informatics breast cancer estrogen receptor alpha persistent organic pollutants drug-drug interaction networks molecular docking NGS ctDNA VAF liquid biopsy filtering variant calling DEGs diagnosis ovarian cancer PUS7 RMGs CPA4 bladder urothelial carcinoma immune cells T cell exhaustion checkpoint architectural distortion image processing depth-wise convolutional neural network mammography bladder cancer Annexin family survival analysis prognostic signature therapeutic target R Shiny application RNA-seq proteomics multi-omics analysis T-cell acute lymphoblastic leukemia CCLE sitagliptin thyroid cancer (THCA) papillary thyroid cancer (PTCa) thyroidectomy metastasis drug resistance biomarker identification transcriptomics machine learning prediction variable selection major histocompatibility complex bidirectional long short-term memory neural network deep learning cancer incidence mortality modeling forecasting Google Trends Romania ARIMA TBATS NNAR |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910595077403321 |
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Wan Shibiao
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| Basel, : MDPI Books, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Cell-Free Nucleic Acids
| Cell-Free Nucleic Acids |
| Autore | Nagy Bálint |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (248 p.) |
| Soggetto non controllato |
screening
single nucleotide polymorphism predictive and preventive approach PTEN cell-free DNAs fetal fraction gestational hypertension RASSF1 CDH1 RT-PCR cfDNA statistical models hematopoietic stem cell transplantation NanoString solid organ transplantation copy number variants sarcomas liquid biopsy obesity fetal DNA neutrophil extracellular traps mammography non-invasive prenatal testing ovarian cancer circulating miRNA pyrosequencing growth retardation preeclampsia gestational diabetes mellitus biomarker inflammatory bowel disease multi-level diagnostics PAX1 population study nuclease activity NETosis omics piRNA cell-free DNA prediction leiomyosarcomas network analysis NGS statistical methods circulating nucleic acids deletion/insertion polymorphism gender differences leiomyomas fetal growth restriction blood plasma exosomes miRNA pregnancy-related complications NIPT genetic marker cell-free nucleic acids extracellular vesicles expression next generation sequencing breast cancer individualized patient profile circulating tumor cells maternal serum screening personalized medicine embryo culture medium C19MC microRNA DNA cell-free RNAs z-score fetal cells microchimerism aging plasma |
| ISBN | 3-03928-075-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910372783603321 |
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Nagy Bálint
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| MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Conservation Genetics for Management of Threatened Plant and Animal Species
| Conservation Genetics for Management of Threatened Plant and Animal Species |
| Autore | Ottewell Kym |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (162 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
small isolated population
Mediterranean native trout morphological deformities Camphorosmoideae conservation genetics disjunct distribution population fragmentation population structure single nucleotide polymorphism (SNP) markers genetic diversity population viability analysis allele retention translocation conservation management threatened marsupial remnant conservation natural hybridisation Eucalyptus high throughput sequencing NGS South Australia golden bandicoot southern brown bandicoot quenda phylogenetic taxonomy evolutionarily significant unit ecosystem engineer genetic rescue genetic restoration supplementation disease inbreeding genetic swamping locally unique alleles population genetics marsupial adaptive potential Leadbeater's possum Gymnobelideus leadbeateri ex situ conservation Psittacidae Ara macao Xcaret captive breeding climate drying cpDNA ecotype Evolutionarily Significant Units gene flow geographic expansion patchy abundance phylogeography |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910580203803321 |
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Ottewell Kym
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Current Challenges in Cardiovascular Molecular Diagnostics
| Current Challenges in Cardiovascular Molecular Diagnostics |
| Autore | Carlo Napolitano |
| Pubbl/distr/stampa | Frontiers Media SA, 2017 |
| Descrizione fisica | 1 electronic resource (128 p.) |
| Collana | Frontiers Research Topics |
| Soggetto non controllato |
genetic variants
Cardiovascular Diseases Genetic Testing channelopathy variant interpretation NGS Sudden cardiac death cardiomyopathy Cardiovascular genetics |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910261141803321 |
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Carlo Napolitano
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| Frontiers Media SA, 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Drug-diagnostics co-development in oncology [[electronic resource] /] / topic editor Jan Trøst Jørgensen
| Drug-diagnostics co-development in oncology [[electronic resource] /] / topic editor Jan Trøst Jørgensen |
| Autore | Jan Trost Jorgensen |
| Pubbl/distr/stampa | Frontiers Media SA, 2014 |
| Descrizione fisica | 1 online resource (111 pages) : colour illustrations, charts |
| Disciplina | 615.1/9 |
| Collana | Frontiers Research Topics |
| Soggetto topico | Oncology |
| Soggetto non controllato |
IHC
fish precision medicine NGS Drug-diagnostic co-development companion diagnostics oncology personalized medicine |
| ISBN | 9782889193325 (ebook) |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910136407603321 |
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Jan Trost Jorgensen
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| Frontiers Media SA, 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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EmbryoGenetics
| EmbryoGenetics |
| Autore | Simón Carlos |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (176 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
extracellular vesicles
exosomes microvesicles apoptotic bodies DNA preimplantation embryos murine blastocysts embryo uterus window of implantation PGT-A PGT-SR mosaicism embryo genetics chromosomal abnormality preimplantation genetic testing PGT-P polygenic risk scoring genomic index relative risk reduction combined preimplantation genetic testing Preimplantation genetic testing for monogenic disorders (PGT-M) Preimplantation genetic testing for aneuploidy assessment (PGT-A) Autosomal dominant polycystic kidney disease (ADPKD) male infertility advanced maternal age aneuploidy NGS segmental translocations monogenic disease multiplex PCR SNP array genome editing genetic diseases embryos vitrification ovarian response female age genetic testing reproductive health next-generation sequencing whole exome sequencing perinatal care infertility aneuploidies polygenic disease blastocyst endometrium implantation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557725303321 |
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Simón Carlos
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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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Environmental Factors Shaping the Soil Microbiome
| Environmental Factors Shaping the Soil Microbiome |
| Autore | Sa Tongmin |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (156 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
halophyte
arbuscular mycorrhizal fungi plant growth promoting rhizobacteria morphological characteristics photosynthesis soil enzymes microbial interactions rhizosphere DNA proteins microbial diversity microbial activity acidic soil improvement liming microbial community plant residue incorporation soil enzyme activity subtropical orchard soil phosphorus-enriched rhizosphere soils phosphate phytoremediation bacterial communities high-throughput sequencing Orchidaceae soil bacteria fungi microbiome heavy metal NGS azo dye textile wastewater diversity xenobiotics pollutant Nitrogen deposition soil biodiversity urban 16S rRNA wild-simulated ginseng Panax ginseng C.A. Meyer soil bacterial community soil property correlation analysis agricultural practices cultivar grafting interaction rootstock scion plant performance rhizosphere bacteria taxonomic indicators viticulture long-term fertilization next-generation sequencing bacterial diversity plant growth soil microbial community environmental factors soil contamination culture-independent analysis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557349403321 |
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Sa Tongmin
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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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Food Chains and Food Webs in Aquatic Ecosystems
| Food Chains and Food Webs in Aquatic Ecosystems |
| Autore | Park Young-Seuk |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (110 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Ecological science, the Biosphere |
| Soggetto non controllato |
coastal ecosystem
eDNA metabarcoding microscopy monitoring and assessment spatial patterns complemental monitoring tool benthic macroinvertebrates canonical correspondence analysis land use spatial distribution water quality gut content of Rotifera eliminate the extracellular DNA commercial bleach pretreatment food webs Mediterranean coastal lakes nitrogen pollution stable isotopes trophic relationships Anguilla anguilla Diplodus annularis di(2-ethylhexyl) phthalate (DEHP) crustacean heat shock proteins (HSPs) gene expression environmental risk assessment food web food chain aquatic ecosystems monitoring assessment environmental DNA isotope NGS |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557147803321 |
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Park Young-Seuk
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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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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 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
retina
inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader-Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
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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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