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| 001 | 978-981-99-9323-9 | ||
| 003 | DE-He213 | ||
| 005 | 20251030112031.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 240507s2024 si | s |||| 0|eng d | ||
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_a9789819993239 _9978-981-99-9323-9 |
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_a10.1007/978-981-99-9323-9 _2doi |
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| 072 | 7 |
_aPSAK _2bicssc |
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_aSCI029000 _2bisacsh |
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_aPSAK _2thema |
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_aRare Genetic Disorders _h[electronic resource] : _bAdvancements in Diagnosis and Treatment / _cedited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam. |
| 250 | _a1st ed. 2024. | ||
| 264 | 1 |
_aSingapore : _bSpringer Nature Singapore : _bImprint: Springer, _c2024. |
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| 300 |
_aXIII, 275 p. 1 illus. _bonline resource. |
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| 336 |
_atext _btxt _2rdacontent |
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| 337 |
_acomputer _bc _2rdamedia |
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| 338 |
_aonline resource _bcr _2rdacarrier |
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| 347 |
_atext file _bPDF _2rda |
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| 505 | 0 | _aChapter 1. Introduction to rare genetic disorders -- Chapter 2. Techniques for genetic disorders -- Chapter 3. Prenatal screening and counseling for rare genetic disorders -- Chapter 4. Disease models for Rare Genetic Disorders -- Chapter 5. Research and clinical approaches to undiagnosed rare genetic disorders -- Chapter 6. Drug discovery and development for Rare Genetic Disorders -- Chapter 7. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations and Therapeutic Advances in Fabry Disease and Marfan Syndrome -- Chapter 8. Current insights into the potential of gene therapy to treat rare mitochondrial diseases -- Chapter 9. Challenges and future opportunities in Rare Genetic Disorders. | |
| 520 | _aThis book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing. | ||
| 650 | 0 |
_aGenetics. _968863 |
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| 650 | 0 | _aMolecular genetics. | |
| 650 | 0 |
_aMedical genetics. _964976 |
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| 650 | 1 | 4 |
_aGenetics and Genomics. _968866 |
| 650 | 2 | 4 | _aMolecular Genetics. |
| 650 | 2 | 4 |
_aMedical Genetics. _964976 |
| 700 | 1 |
_aUmair, Muhammad. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _976495 |
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| 700 | 1 |
_aRafeeq, Misbahuddin. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _976496 |
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| 700 | 1 |
_aAlam, Qamre. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _976497 |
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| 710 | 2 | _aSpringerLink (Online service) | |
| 773 | 0 | _tSpringer Nature eBook | |
| 776 | 0 | 8 |
_iPrinted edition: _z9789819993222 |
| 776 | 0 | 8 |
_iPrinted edition: _z9789819993246 |
| 776 | 0 | 8 |
_iPrinted edition: _z9789819993253 |
| 856 | 4 | 0 | _uhttps://doi.org/10.1007/978-981-99-9323-9 |
| 912 | _aZDB-2-SME | ||
| 912 | _aZDB-2-SXM | ||
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