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Applying an implementation science approach to genomic medicine : workshop summary / / Siobhan Addie, Steve Olson, and Sarah H. Beachy, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health [and three others]
| Applying an implementation science approach to genomic medicine : workshop summary / / Siobhan Addie, Steve Olson, and Sarah H. Beachy, rapporteurs ; Roundtable on Translating Genomic-Based Research for Health [and three others] |
| Pubbl/distr/stampa | Washington, District of Columbia : , : The National Academies Press, , 2016 |
| Descrizione fisica | 1 online resource (137 pages) : illustrations, tables |
| Disciplina | 616.042 |
| Soggetto topico |
Medical genetics
Genomics |
| Soggetto genere / forma | Electronic books. |
| ISBN | 0-309-43777-6 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910478862803321 |
| Washington, District of Columbia : , : The National Academies Press, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
| Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| Autore | Gouw Arvin M |
| Pubbl/distr/stampa | Frontiers Media SA, 2020 |
| Descrizione fisica | 1 electronic resource (119 p.) |
| Soggetto topico |
Science: general issues
Medical genetics |
| Soggetto non controllato |
Rare disease
Genomics Next generation sequencing transgenic genetic analysis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557223103321 |
Gouw Arvin M
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| Frontiers Media SA, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Artificial Intelligence Bioinformatics: Development and Application of Tools for Omics and Inter-Omics Studies
| Artificial Intelligence Bioinformatics: Development and Application of Tools for Omics and Inter-Omics Studies |
| Autore | Facchiano Angelo |
| Pubbl/distr/stampa | Frontiers Media SA, 2020 |
| Descrizione fisica | 1 electronic resource (175 p.) |
| Soggetto topico |
Science: general issues
Medical genetics |
| Soggetto non controllato |
artificial intelligence
bioinformatics genomics omics inter-omics machine learning data mining proteomics |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Artificial Intelligence Bioinformatics |
| Record Nr. | UNINA-9910557253003321 |
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Facchiano Angelo
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| Frontiers Media SA, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Aspects of molecular medicine
| Aspects of molecular medicine |
| Pubbl/distr/stampa | Amsterdam : , : Elsevier B.V., , [2023]- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Biochemistry
Medical genetics Molecular Medicine Genetics, Medical Biochimie Génétique médicale biochemistry |
| Soggetto genere / forma |
Periodical
Periodicals. |
| ISSN | 2949-6888 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNISA-996568266103316 |
| Amsterdam : , : Elsevier B.V., , [2023]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Aspects of molecular medicine
| Aspects of molecular medicine |
| Pubbl/distr/stampa | Amsterdam : , : Elsevier B.V., , [2023]- |
| Descrizione fisica | 1 online resource |
| Soggetto topico |
Biochemistry
Medical genetics Molecular Medicine Genetics, Medical Biochimie Génétique médicale biochemistry |
| Soggetto genere / forma |
Periodical
Periodicals. |
| ISSN | 2949-6888 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910645898703321 |
| Amsterdam : , : Elsevier B.V., , [2023]- | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Atlas of Inherited Retinal Diseases [[electronic resource] /] / edited by Stephen H. Tsang, Tarun Sharma
| Atlas of Inherited Retinal Diseases [[electronic resource] /] / edited by Stephen H. Tsang, Tarun Sharma |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (262 pages) |
| Disciplina | 616.042 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Gene therapy
Animal genetics Ophthalmology Medical genetics Gene Therapy Animal Genetics and Genomics Gene Function |
| ISBN | 3-319-95046-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Section I: Basic Knowledge. Retinal Histology and Anatomical Landmarks -- Fluorescein Angiography -- Optical Coherence Tomography -- Fundus Autofluorescence -- Electroretinography -- Electrooculography -- Glossary of Relevant Genetic and Molecular/Cell Biology -- Section II: X-linked Forms -- X-Linked Retinitis Pigmentosa -- X-Linked Choroideremia -- X-Linked Juvenile Retinoschisis -- X-Linked Ocular Albinism -- Progressive Cone Dystrophy and Cone-Rod Dystrophy -- Congenital Stationary Night Blindness -- Blue Cone Monochromatism -- Section III: Autosomal Dominant Forms -- Autosomal Dominant Retinitis Pigmentosa -- Best Vitelliform Macular Dystrophy -- Pattern Dystrophy -- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) -- Occult Macular Dystrophy -- Sorsby Pseudoinflammatory Fundus Dystrophy -- North Carolina Macular Dystrophy -- Pigmented Paravenous Chorioretinal Atrophy (PPCRA) -- Late-Onset Retinal Degeneration -- Section IV: Autosomal Recessive Form -- Rod Monochromatism (Achromatopsia) -- Retinitis Pigmentosa (Non-syndromic) -- Leber Congenital Amaurosis -- Stargardt Disease -- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) -- Best Vitelliform Macular Dystrophy -- Section V: Systemic Disorders -- Mitochondrial Disorder: Kearns-Sayre Syndrome -- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness -- Ciliopathy: Usher Syndrome -- Ciliopathy: Bardet-Biedl Syndrome -- Ciliopathy: Senior-Løken Syndrome -- Ciliopathy: Alström Syndrome -- Ciliopathy: Sjögren-Larsson Syndrome -- Inborn Errors of Metabolism: Gyrate Atrophy -- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum -- Inborn Errors of Metabolism: Refsum Disease -- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy -- Extracellular Matrix: Alport Syndrome -- Section VI: Phakomatoses -- Von Hippel-Lindau Disease -- Tuberous Sclerosis -- Neurofibromatosis -- Section VII: Phenocopies -- Rubella Retinopathy -- Syphilis -- Autoimmune Retinopathy -- Drug-Induced Retinal Toxicity -- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases -- Diffuse Unilateral Subacute Neuroretinitis (DUSN) -- Section VIII: Managing IRDs in Clinics -- A Practical Approach to Retinal Dystrophies -- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. |
| Record Nr. | UNINA-9910303440103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Autoimmune Diseases : Contributing Factors, Specific Cases of Autoimmune Diseases, and Stem Cell and Other Therapies / / edited by James Chan
| Autoimmune Diseases : Contributing Factors, Specific Cases of Autoimmune Diseases, and Stem Cell and Other Therapies / / edited by James Chan |
| Pubbl/distr/stampa | Rijeka : , : InTech, , 2012 |
| Descrizione fisica | 1 online resource (vi, 406 pages) : illustrations (some color) |
| Disciplina | 616.978 |
| Soggetto topico |
Autoimmune diseases
Medical genetics |
| ISBN | 953-51-7020-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Autoimmune Diseases |
| Record Nr. | UNINA-9910138289403321 |
| Rijeka : , : InTech, , 2012 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Balkan journal of medical genetics
| Balkan journal of medical genetics |
| Pubbl/distr/stampa | Warsaw, Poland : , : De Gruyter Open |
| Soggetto topico |
Medical genetics
Genetics, Medical Genètica mèdica |
| Soggetto genere / forma |
Periodical
Periodicals. Revistes electròniques. |
| ISSN | 2199-5761 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | BJMG |
| Record Nr. | UNISA-996321188003316 |
| Warsaw, Poland : , : De Gruyter Open | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
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Balkan journal of medical genetics
| Balkan journal of medical genetics |
| Pubbl/distr/stampa | Warsaw, Poland : , : De Gruyter Open |
| Soggetto topico |
Medical genetics
Genetics, Medical Genètica mèdica |
| Soggetto genere / forma |
Periodical
Periodicals. Revistes electròniques. |
| ISSN | 2199-5761 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | BJMG |
| Record Nr. | UNINA-9910145843203321 |
| Warsaw, Poland : , : De Gruyter Open | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Binding Protein / / edited by Kotb Abdelmohsen
| Binding Protein / / edited by Kotb Abdelmohsen |
| Pubbl/distr/stampa | Rijeka : , : InTech, , 2012 |
| Descrizione fisica | 1 online resource (xi, 216 pages) : illustrations |
| Disciplina | 616.042 |
| Soggetto topico | Medical genetics |
| ISBN | 953-51-5319-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910138284103321 |
| Rijeka : , : InTech, , 2012 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Soggetto topico
-
Medical genetics
(449)
- Genetics, Medical (72)
- Gene Function (60)
- Science: general issues (56)
- Genomics (53)