標(biāo)題: Titlebook: Rare Genetic Disorders; Advancements in Diag Muhammad Umair,Misbahuddin Rafeeq,Qamre Alam Book 2024 The Editor(s) (if applicable) and The A [打印本頁] 作者: 小天使 時(shí)間: 2025-3-21 16:03
書目名稱Rare Genetic Disorders影響因子(影響力)
作者: neolith 時(shí)間: 2025-3-21 21:37
Techniques for the Diagnosis of Rare Genetic Disorders,ften inherited from parents with mutant genes. Rare diseases afflict more than 300–400 million people worldwide, including 30 million in the United States, and often result in chronic illness, disability, and premature death. Using heuristic approaches to diagnose rare diseases is a common practice 作者: A簡(jiǎn)潔的 時(shí)間: 2025-3-22 02:19 作者: 分散 時(shí)間: 2025-3-22 08:02
Disease Models for Rare Genetic Disorders,iagnosis, treatment, and overall quality of life for those affected by these conditions. Animal models stand as indispensable tools in rare disease research, offering insights into disease mechanisms, treatment efficacy, and potential interventions that ultimately improve the lives of those affected作者: PANEL 時(shí)間: 2025-3-22 11:54
Drug Discovery and Development for Rare Genetic Disorders,e limited market size, expensive demand, and perhaps low financial return, research and development of rare disorder therapies have only recently increased internationally, in several domains including small-molecule pharmaceuticals and biologics. There is a considerable gap between fundamental rese作者: 使熄滅 時(shí)間: 2025-3-22 15:02
Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances inment and life-threatening complications. This comprehensive review summarizes current knowledge on the pathophysiological mechanisms, gene mutations, and therapeutic approaches for these conditions. Fabry disease stems from mutations in the GLA gene, leading to deficient α-galactosidase A enzyme act作者: 聲音刺耳 時(shí)間: 2025-3-22 19:56
Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases, and maintenance of mitochondria. These mutations disrupt the proteins and activities associated with mitochondria, resulting in impairments across various systems and organs in the body, leading to debilitating diseases. They are multisystemic in nature and contain mutations in both the nuclear and作者: nocturia 時(shí)間: 2025-3-22 21:48
Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review,ollectively affect millions of individuals globally. Genomic and personalised medicine have illuminated RGD aetiology, but many problems and potentials remain. This review discusses RGD challenges, future opportunities and highlights opportunities to improve patient care and research. Patients often作者: Incorporate 時(shí)間: 2025-3-23 01:46 作者: adumbrate 時(shí)間: 2025-3-23 08:31 作者: 佛刊 時(shí)間: 2025-3-23 10:13
ections in the areas of social networks and? applications to data mining. While ESNAM ?reflects the state-of-the-art in ?social network research, the field ?had its start in the 1930s when fundamental issues in social network research were broadly defined. These communities were limited to relativel作者: urethritis 時(shí)間: 2025-3-23 14:57
Amudha Parthasarathy,Muthuvel Raju,Langeswaran Kulanthaivel,Gowtham Kumar Subbaraj comprehensive coverage of all fields that contribute to soc.The .Encyclopedia of Social Network Analysis and Mining. (ESNAM) is the first major reference work to integrate fundamental concepts and research directions in the areas of social networks and? applications to data mining. While ESNAM ?ref作者: Prophylaxis 時(shí)間: 2025-3-23 19:06
Iyshwarya B K,Ramakrishnan Veerabathiranections in the areas of social networks and? applications to data mining. While ESNAM ?reflects the state-of-the-art in ?social network research, the field ?had its start in the 1930s when fundamental issues in social network research were broadly defined. These communities were limited to relativel作者: Endearing 時(shí)間: 2025-3-24 00:28
K. Kumaran,Suruthi Abirami,Abna Ajeesh,J. Hemarangan,T. L. Vasanth Kanth,P. Shriya,K. N. Aruljothi comprehensive coverage of all fields that contribute to soc.The .Encyclopedia of Social Network Analysis and Mining. (ESNAM) is the first major reference work to integrate fundamental concepts and research directions in the areas of social networks and? applications to data mining. While ESNAM ?ref作者: 禍害隱伏 時(shí)間: 2025-3-24 03:29 作者: 鄙視 時(shí)間: 2025-3-24 08:37
Archana Rajavel,Raja Natesan Sellaections in the areas of social networks and? applications to data mining. While ESNAM ?reflects the state-of-the-art in ?social network research, the field ?had its start in the 1930s when fundamental issues in social network research were broadly defined. These communities were limited to relativel作者: 一起平行 時(shí)間: 2025-3-24 11:24 作者: Contracture 時(shí)間: 2025-3-24 17:09
Goutam Biswas,Nithar Ranjan Madhu,Bhanumati Sarkar,Soumosish Paul,Hadi Erfani,Qamre Alamections in the areas of social networks and? applications to data mining. While ESNAM ?reflects the state-of-the-art in ?social network research, the field ?had its start in the 1930s when fundamental issues in social network research were broadly defined. These communities were limited to relativel作者: 鞠躬 時(shí)間: 2025-3-24 22:03 作者: anthropologist 時(shí)間: 2025-3-25 01:46 作者: Obstruction 時(shí)間: 2025-3-25 06:59
of diverse disciplines, from computer science, mathematics, and statistics to?sociology and behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they作者: –DOX 時(shí)間: 2025-3-25 08:52
Iyshwarya B K,Ramakrishnan Veerabathiranof diverse disciplines, from computer science, mathematics, and statistics to?sociology and behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they作者: labile 時(shí)間: 2025-3-25 12:48
Archana Rajavel,Raja Natesan Sellaof diverse disciplines, from computer science, mathematics, and statistics to?sociology and behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they作者: 聾子 時(shí)間: 2025-3-25 16:58 作者: catagen 時(shí)間: 2025-3-25 23:18
Goutam Biswas,Nithar Ranjan Madhu,Bhanumati Sarkar,Soumosish Paul,Hadi Erfani,Qamre Alamof diverse disciplines, from computer science, mathematics, and statistics to?sociology and behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they作者: micturition 時(shí)間: 2025-3-26 00:35
Sreyank Tirunagari,Sid Dsa,Megala Jayaramanof diverse disciplines, from computer science, mathematics, and statistics to?sociology and behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they作者: opalescence 時(shí)間: 2025-3-26 07:30 作者: Conscientious 時(shí)間: 2025-3-26 09:24 作者: PACK 時(shí)間: 2025-3-26 15:34 作者: Exterior 時(shí)間: 2025-3-26 20:39
Disease Models for Rare Genetic Disorders,er hand, non-rodent animal models also provide diverse opportunities to study rare diseases and contribute unique insights that complement rodent models. Primate models stand as indispensable tools for unraveling the complexities of rare diseases, bridging the gap between laboratory findings and cli作者: 無能的人 時(shí)間: 2025-3-27 00:42
Drug Discovery and Development for Rare Genetic Disorders,ologies for orphan diseases are discussed. Genome and pharmacogenetics studies provide interpretation for the disease etiology and treatment. Regarding the road map of small-molecule drug development, building up a compound library and bioassay development, virtual and experimental screening, hit co作者: 不如樂死去 時(shí)間: 2025-3-27 04:07
Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances inre integral components of Fabry disease management. Marfan syndrome is primarily associated with mutations in the FBN1 gene, encoding truncated or nonfunctional fibrillin-1. Altered fibrillin-1 structure disrupts connective tissue homeostasis, resulting in diverse clinical manifestations. Pathophysi作者: 書法 時(shí)間: 2025-3-27 08:45
Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases,s therapy is still in its early stages, further research is needed to determine its effectiveness and safety. This chapter explores the biology of the mitochondria, mutations, and prospective uses of gene therapy in the future to treat rare mitochondrial diseases.作者: 美色花錢 時(shí)間: 2025-3-27 10:09
Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review,pment costs and little commercial potential. Next-generation sequencing (NGS) has greatly shortened diagnosis time. Genome or exome sequencing can discover causative mutations even in rare or undiagnosed illnesses. This technology and global collaborative networks like the Undiagnosed Diseases Netwo作者: 伸展 時(shí)間: 2025-3-27 16:03 作者: guardianship 時(shí)間: 2025-3-27 18:29 作者: 不滿分子 時(shí)間: 2025-3-28 00:08
K. Kumaran,Suruthi Abirami,Abna Ajeesh,J. Hemarangan,T. L. Vasanth Kanth,P. Shriya,K. N. Aruljothid behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they978-1-4614-6170-8作者: 審問 時(shí)間: 2025-3-28 05:27 作者: 小說 時(shí)間: 2025-3-28 07:17
Nithar Ranjan Madhu,Goutam Biswas,Soumosish Paul,Suman Adhikari,Bhanumati Sarkar,Misbahuddin M. Rafed behavioral science, are described among the 300 authoritative yet highly readable entries.?Students will find a world of information and insight behind the familiar fa?ade of the social networks in which they978-1-4614-6170-8作者: 命令變成大炮 時(shí)間: 2025-3-28 14:23
he 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 978-981-99-9325-3978-981-99-9323-9作者: 大暴雨 時(shí)間: 2025-3-28 17:53 作者: WATER 時(shí)間: 2025-3-28 19:50 作者: 絕種 時(shí)間: 2025-3-29 01:54 作者: blackout 時(shí)間: 2025-3-29 04:04
Research and Clinical Approaches to Undiagnosed Rare Genetic Disorders,Rare genetic diseases are complex and heterogeneous. The diagnostic challenges of undiagnosed rare genetic disorders are due to their diversity and limited knowledge of their genetic origin. This chapter provides a comprehensive overview of the research and clinical strategies for identifying and treating undiagnosed rare diseases.作者: Lymphocyte 時(shí)間: 2025-3-29 10:19
