Genetic disease discovery and therapeutics /
Presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders. This book investigates methodologies applied to the characterization of d...
-д хадгалсан:
| Үндсэн зохиолч: | |
|---|---|
| Формат: | Цахим Цахим ном |
| Хэл сонгох: | англи |
| Хэвлэсэн: |
London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States :
Elsevier, Academic Press, an Imprint of Elsevier,
[2025]
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| Нөхцлүүд: | |
| Онлайн хандалт: | ScienceDirect |
| Шошгууд: |
Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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| 082 | 0 | 4 | |a 616/.042 |2 23/eng/20241113 |1 https://id.oclc.org/worldcat/ddc/E3gHky9fyMGgtgWvvJD4xp9Vw8 |
| 100 | 1 | |a Smith, Moyra, |e author. |1 https://id.oclc.org/worldcat/entity/E39PCjrx7mMcGhDmdRBRmwpYrm | |
| 245 | 1 | 0 | |a Genetic disease discovery and therapeutics / |c Moyra Smith. |
| 264 | 1 | |a London, United Kingdom ; |a San Diego, CA, United States ; |a Cambridge, MA, United States : |b Elsevier, Academic Press, an Imprint of Elsevier, |c [2025] | |
| 264 | 4 | |c ©2025 | |
| 300 | |a 1 online resource | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 347 | |a text file |2 rdaft | ||
| 504 | |a Includes bibliographical references and index. | ||
| 520 | |a Presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders. This book investigates methodologies applied to the characterization of downstream functional effects of specific gene mutations associated with altered phenotypes and clinical disease. It documents evidence of how specific mutations influence pathology and lead to disease manifestations. This book also reviews information on therapeutic approaches that could potentially be applied in diseases due to gene defects. It is a reference for scientists and graduate students involved in laboratory research related to genetics, physiology, pathology, and pharmacology as well as clinicians who encounter patients with genetic disorders. | ||
| 588 | 0 | |a Online resource; title from PDF title page (ScienceDirect platform, viewed February 12, 2025). | |
| 505 | 8 | |a Front Cover -- GENETIC DISEASE DISCOVERY AND THERAPEUTICS -- GENETIC DISEASE DISCOVERY AND THERAPEUTICS -- Copyright -- Dedication -- Epigraph -- Contents -- Preface -- Acknowledgments -- I -- Disease classification and possible diagnosis -- 1 -- Clinical features to consider in a patient with possible genetic disease -- Clinical genetics assessment: History and physical examination -- Family history information -- Resources of information relevant to developmental defects and genetic disorders -- Databases with information on developmental defects and genetic diseases -- Aspects of developmental delay -- Movement disorders and cerebral palsy -- Autism -- Example of clinical care in a patient with a chromosomal disorder: Angelman syndrome -- Access to clinical genetic services -- WHO report on recommendations for community genetic services in low and middle income countries (2010) -- Genetic contributions to the pathogenesis of congenital heart disease -- Emerging techniques -- Chromosome aneuploidies associated with congenital heart disease -- Congenital heart disease in specific chromosome aneuploidies -- Williams syndrome -- Jacobsen syndrome -- Chromosome 1p36.3 deletion syndrome -- Deletion of chromosome 1q21.1 -- Holt Oram syndrome |7 Generated by AI | |
| 650 | 0 | |a Genetic disorders. | |
| 650 | 0 | |a Genetic disorders |x Diagnosis. | |
| 650 | 0 | |a Genetic disorders |x Treatment. | |
| 650 | 2 | |a Genetic Diseases, Inborn |0 (DNLM)D030342 | |
| 650 | 6 | |a Maladies génétiques. |0 (CaQQLa)201-0024547 | |
| 650 | 6 | |a Maladies génétiques |x Diagnostic. |0 (CaQQLa)201-0242966 | |
| 650 | 6 | |a Maladies génétiques |0 (CaQQLa)201-0024547 |x Traitement. |0 (CaQQLa)201-0377521 | |
| 650 | 7 | |a Genetic disorders |2 fast |0 (OCoLC)fst00940009 | |
| 650 | 7 | |a Genetic disorders |x Diagnosis |2 fast |0 (OCoLC)fst00940011 | |
| 650 | 7 | |a Genetic disorders |x Treatment |2 fast |0 (OCoLC)fst00940023 | |
| 776 | 0 | 8 | |i Print version: |a Smith, Moyra. |t Genetic disease discovery and therapeutics. |d London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States : Elsevier, Academic Press, an Imprint of Elsevier, [2025] |z 9780443236488 |w (OCoLC)1464023194 |
| 776 | 0 | 8 | |c Original |z 9780443236488 |z 0443236488 |w (OCoLC)1435749540 |
| 856 | 4 | 0 | |3 ScienceDirect |u https://www.sciencedirect.com/science/book/9780443236488 |