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Neonatal Screening for Critical Congenital Heart Defects / Andrew Ewer
| Neonatal Screening for Critical Congenital Heart Defects / Andrew Ewer |
| Autore | Ewer Andrew |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (98 p.) |
| Soggetto non controllato |
altitude
CCHD screening in the US screening coarctation of aorta oxygen saturation neonates critical congenital heart disease screening newborn screening pulse oximetry home births health policy congenital heart disease neonatal screening pulse oximetry cost-effectiveness hypoxia neonate newborn critical congenital heart disease state screening pulse oximetry screening economic evaluation screening algorithm newborn screening Germany congenital heart defects |
| ISBN |
9783039210497
3039210491 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910346681703321 |
Ewer Andrew
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas
| New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas |
| Autore | Igaz Peter |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (272 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
adaptive metabolism
adenoma adrenal adrenal gland adrenalectomy adrenocortical adrenocortical carcinoma adrenocortical tumor aldosterone aldosterone producing adenoma aldosterone-producing adenoma ALT arterial stiffness artificial intelligence ATP2B3 ATRX bioinformatic clustering biomarker biomarker prediction cancer circulating conn adenoma driver mutations drug discovery endocrine tumor syndrome environment epidemiology epigenetics fatty acid metabolism ferroptosis genetic analysis genetic testing genetics germline H295 strains hereditary hereditary cancer hyperaldosteronism in silico analysis K416-F418delinsN mutation KCNJ5 somatic mutation machine learning malignancy metabolic reprogramming metabolomics metastatic microRNA mitochondrial complex II mitotane mortality mutations n/a neonatal screening neural network next generation sequencing Next Generation Sequencing non-coding RNA NOP10 paraganglioma paragangliomas phaeochromocytoma pheochromocytoma pheochromocytomas PPARα PPGL primary aldosteronism prognostic biomarker propensity score matching pulse wave velocity redox balance pathway RNAseq screening somatic surveillance susceptibility genes telomeres TERT therapy tissue TP53 R337H transcriptomics treatment tumor microenvironment tumor suppressor genes variants Vitamin C zebrafish β-oxidation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557609003321 |
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Igaz Peter
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies / Elena Cela, Jacques Elion, Stephan Lobitz, Raffaella Colombatti
| Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies / Elena Cela, Jacques Elion, Stephan Lobitz, Raffaella Colombatti |
| Autore | Cela Elena |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (162 p.) |
| Soggetto topico | Chemistry |
| Soggetto non controllato |
glucose-6-phosphate dehydrogenase
hydroxyurea/hydroxycarbamide cord blood screening hemoglobin pattern capillary electrophoresis sickle cell disease (recommended) screening panel vaso-occlusive crisis Guthrie spots newborn screening) foetal haemoglobin harmonisation review birth prevalence G6PD deficiency prevention end-organ damage thalassemia MALDI-TOF IEF acute chest syndrome India sickle cell and thalassaemia screening programme 'Getting to Outcomes' newborn screening hemoglobinopathy service users public health engagement automated HPLC Kaduna State gene therapy for haemoglobinopathies ?-globin gene methods neonatal screening program malaria Plasmodium vivax sub-Saharan Africa patient organisations health policy pathophysiology Sickle Cell Disease mass spectrometry sickle cell disorder neonatal screening non-tribal Nigeria point-of-care HPLC laboratory methods registry patient advocacy bone marrow transplant anaemia hemoglobinopathies tribal newborn burden of disease patient representatives diagnostics policy making haemolysis Caribbean high performance liquid chromatography (HPLC) sickle cell disease (SCD) implementation science |
| ISBN |
9783039216154
3039216155 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367754603321 |
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Cela Elena
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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