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Neurofibromatosis Type 1 : Molecular and Cellular Biology / edited by Meena Upadhyaya, David N. Cooper
| データ種別 | 電子ブック |
|---|---|
| 著者標目 | *Upadhyaya, Meena Cooper, David N. SpringerLink (Online service) |
| 出版者 | Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer |
| 出版年 | 2012 |
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| 巻次 | ISBN:9783642328640 |
|---|---|
| 大きさ | XVI, 717 p. 75 illus., 60 illus. in color : digital |
| 内容注記 | From the Contents: von Recklinghausen disease Clinical diagnosis and atypical cases Management and treatment of NF1: complex UK NF1 clinics Mortality in NF1 The cognitive profile of NF1 children, therapeutic implications Clinical expression of NF1 in monozygotic twins Whole body MRI studies in NF1 patients Quality of Life in NF1 NF1 gene: promoter, 3’UTR and complex features Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations Splicing mechanisms and mutations in the NF1 gene NF1 Germline and somatic mosaicism Deep intronic NF1 mutations and possible therapeutic interventions NF1 microdeletions and mutational mechanisms NF1 somatic mutational spectrum Social Stigma in NF1 Personalized Medicine in NF1 Future Directions - Where do we go from here |
| 件 名 | LCSH:Medicine LCSH:Oncology LCSH:Human genetics LCSH:Neurosciences FREE:Biomedicine FREE:Human Genetics FREE:Cancer Research FREE:Oncology FREE:Molecular Medicine FREE:Neurosciences |
| 分 類 | DC23:611.01816 DC23:599.935 |
| 書誌ID | OB00006471 |
| ISBN | 9783642328640 |
| NCID | LB40010186 |