May 112017
 

History of Human Genetics: Aspects of Its Development and Global Perspectives


Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years.

The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

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May 082017
 

Medical Genetics in the Clinical Practice of ORL (Advances in Oto-Rhino-Laryngology, Vol. 70)


Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor. This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.
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May 042017
 

Parental Responsibility in the Context of Neuroscience and Genetics (International Library of Ethics, Law, and the New Medicine)


Should parents aim to make their children as normal as possible to increase their chances to “fit in”? Are neurological and mental health conditions a part of children’s identity and if so, should parents aim to remove or treat these? Should they aim to instill self-control in their children? Should prospective parents take steps to insure that, of all the children they could have, they choose the ones with the best likely start in life?

This volume explores all of these questions and more. Against the background of recent findings and expected advances in neuroscience and genetics, the extent and limits of parental responsibility are increasingly unclear. Awareness of the effects of parental choices on children’s wellbeing, as well as evolving norms about the moral status of children, have further increased expectations from (prospective) parents to take up and act on their changing responsibilities. 

The contributors discuss conceptual issues such as the meaning and sources of moral responsibility, normality, treatment, and identity. They also explore more practical issues such as how responsibility for children is practiced in Yoruba culture in Nigeria or how parents and health professionals in Belgium perceive the dilemmas generated by prenatal diagnosis.

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May 032017
 

Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics)


Features: Used Book in Good Condition

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field.

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

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Apr 302017
 

Staphylococcus: Genetics and Physiology


In the twenty first century, the bacterium Staphylococcus aureus continues to be a global threat to human and animal health. There is currently no vaccine for preventing S. aureus infections and the bacterium has developed resistance to many, if not most, antibiotics, hence the therapeutic options are rapidly disappearing. The genetic and physiological flexibility that allows this commensal bacterium to become a powerful pathogen and elucidating the myriad of mechanisms it employs to avoid the host and/or antimicrobials are important areas of research.

This book brings together respected S. aureus  experts from around the world to provide a timely overview of staphylococcal research. Topics covered include: medical significance; genetic variation; virulence factors; metabolism; proteomics; cell wall assembly; antibiotic resistance; genetic regulation; and immune response.

Essential reading for scientists working with staphylococci. This text is an excellent introduction for entry level scientists, as well as those seeking a deeper understanding of this critically important bacterial pathogen.

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Apr 292017
 

Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (Oxford Monographs on Medical Genetics)


By (author): Moyra Smith

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells.
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Apr 292017
 

Advances in Vision Research, Volume I: Genetic Eye Research in Asia and the Pacific (Essentials in Ophthalmology)


This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

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Apr 292017
 

Advances in Biomolecular Medicine: Proceedings of the 4th BIBMC (Bandung International Biomolecular Medicine Conference) 2016 and the 2nd ACMM (ASEAN … 4-6, 2016, Bandung, West Java, Indonesia


Advances in Biomolecular Medicine contains the selected papers presented at the 4th BIBMC (Bandung International Biomolecular Medicine Conference) and the 2nd ACMM (ASEAN Congress on Medical Biotechnology and Molecular Biosciences), hosted by the Faculty of Medicine, Padjadjaran University, Bandung, West Java, Indonesia, 4-6 October 2016. In line with the United Nations Sustainable Development Goals, the theme of the joint scientific meeting is ‘Medical innovation & translational research to ensure healthy lives & promote well-being for all at all ages’.

Authors include scientists, academics, practitioners, regulators and other key individuals with expertise and experience relevant to biomolecular medicine, medical biotechnology and molecular biosciences. Topics of the papers cover various aspects of infection, oncology, tuberculosis, genetics, thalassemia, nutrition, cardiovascular, wound healing and endocrinology. This book is essential reading for academics, scientist, practitioners and regulators involved in the area of biomolecular medicine, medical biotechnology and molecular biosciences.

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Apr 232017
 

Parental Responsibility in the Context of Neuroscience and Genetics (International Library of Ethics, Law, and the New Medicine)


Should parents aim to make their children as normal as possible to increase their chances to “fit in”? Are neurological and mental health conditions a part of children’s identity and if so, should parents aim to remove or treat these? Should they aim to instill self-control in their children? Should prospective parents take steps to insure that, of all the children they could have, they choose the ones with the best likely start in life?

This volume explores all of these questions and more. Against the background of recent findings and expected advances in neuroscience and genetics, the extent and limits of parental responsibility are increasingly unclear. Awareness of the effects of parental choices on children’s wellbeing, as well as evolving norms about the moral status of children, have further increased expectations from (prospective) parents to take up and act on their changing responsibilities. 

The contributors discuss conceptual issues such as the meaning and sources of moral responsibility, normality, treatment, and identity. They also explore more practical issues such as how responsibility for children is practiced in Yoruba culture in Nigeria or how parents and health professionals in Belgium perceive the dilemmas generated by prenatal diagnosis.

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Apr 232017
 

Genetic Skin Disorders (Oxford Monographs on Medical Genetics)


By (author): Virginia P. Sybert

This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals.

Informed by the author’s extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room.

FEATURES

· Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike
· More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities
· Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions

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