Color Atlas of Genetics Edition 5

 Genetics  Comments Off on Color Atlas of Genetics Edition 5
Dec 052019
 

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.
In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases.
Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area.
New fully illustrated topics in the revised fifth edition of the atlas include:
An overview of disorders resulting from structural changes of the genome (genomic disorders)
Abnormal imprinting patterns
Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others)
The CRISPR-Cas system
Genetic features of the aging processes
Disorders due to rearrangements of chromatin in the cell nucleus, and others
With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.

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Essentials of Genetics (10th Edition)

 Genetics  Comments Off on Essentials of Genetics (10th Edition)
Dec 042019
 

Known for its focus on conceptual understanding, problem solving, and practical applications, the bestselling Essentials of Genetics strengthens problem-solving skills and explores the essential genetics topics that today’s students need to understand. The 10th Edition has been extensively updated to provide comprehensive coverage of important, emerging topics such as CRISPR-Cas, epigenetics, and genetic testing. Additionally, a new Special Topic chapter covers Advances in Neurogenetics with a focus on Huntington Disease, and new essays on Genetics, Ethics, and Society emphasize ethical considerations that genetics is bringing into everyday life. The accompanying Mastering Genetics online platform includes new tutorials on topics such as CRISPR-Cas and epigenetics, and new Dynamic Study Modules, which support student learning of key concepts and prepare them for class.

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Hereditary Retinopathies: Progress in Development of Genetic and Molecular Therapies

 Genetics  Comments Off on Hereditary Retinopathies: Progress in Development of Genetic and Molecular Therapies
Dec 022019
 

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.
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Genetics of Obesity Syndromes

 Genetics  Comments Off on Genetics of Obesity Syndromes
Nov 202019
 

Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients.
The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

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Screening the Single Euploid Embryo: Molecular Genetics in Reproductive Medicine

 Genetics, Reproductive Health  Comments Off on Screening the Single Euploid Embryo: Molecular Genetics in Reproductive Medicine
Nov 142019
 

Intended for readers with a background in fertility medicine as well as those less familiar with IVF, this comprehensive work presents an update on preimplantation genetic testing to enable single embryo transfer (SET). An international cast of contributors explains the treatment sequence―from ovulation induction to luteal support―aiming to transfer only one euploid embryo. Applications of molecular techniques for gamete and embryo assessment are fully detailed, with a focus on the strengths and limitations of each. In addition, expert commentary is shared across a range of regulatory challenges associated with embryo screening and cryopreservation. As access to advanced reproductive technology increases against a sharper background of healthcare reform, clinicians, economists, bioethicists and legislators alike will find this new volume relevant and highly accessible.

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Molecular Genetics of Pediatric Orthopaedic Disorders

 Genetics, Orthopedics, Pediatrics  Comments Off on Molecular Genetics of Pediatric Orthopaedic Disorders
Nov 082019
 

In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved.
Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates pediatric orthopedic clinicians and geneticists on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, and notch signaling in congenital scoliosis, and more.

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Plant Reverse Genetics: Methods and Protocols (Methods in Molecular Biology)

 Genetics  Comments Off on Plant Reverse Genetics: Methods and Protocols (Methods in Molecular Biology)
Nov 042019
 

This book describes methods for the analysis of high-throughput genome sequence data, the identification of noncoding RNA from sequence information, the comprehensive analysis of gene expression by microarrays, and metabolomic analysis, all of which are supported by scripts to aid their computational use.
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Epigenetic Contributions in Autoimmune Disease

 Genetics  Comments Off on Epigenetic Contributions in Autoimmune Disease
Oct 112019
 

This volume focuses on the relevance of epigenetic mechanisms in autoimmune disease. It provides new directions for future research in autoimmune disease.
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Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science That Rescued Them

 Genetics  Comments Off on Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science That Rescued Them
Mar 262017
 

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Bone Morphogenetic Proteins: Systems Biology Regulators

 Genetics  Comments Off on Bone Morphogenetic Proteins: Systems Biology Regulators
Mar 222017
 

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