Oxford Monographs on Medical Genetics – serie
Visar alla böcker i serien Oxford Monographs on Medical Genetics. Handla med fri frakt och snabb leverans.
27 produkter
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Av David J. Amor, RJ McKinlay Gardner
Inbunden, 2026
2177 kr
Lägg i varukorg
Chromosome abnormalities occur in about one in a hundred people, and present complex challenges for medical geneticists and genetic counselors. In addition to identifying chromosomal abnormalities, genetics professionals must explain the "unexplainable," helping families understand why chromosome …
Fetal Medicine
Prenatal Diagnosis and Management
Av André Boué, Andre Boue
Inbunden, 1995
2517 kr
Lägg i varukorg
This new book will enable GP's, obstetricians and paediatricians to answer the concerns of the families in their care. It is the first book to make information on this important topic so easily accessible to clinicians. The book is firmly rooted in clinical practice and based on many years of …
The Genetics of Neurological Disorders
Inbunden, 1997
3196 kr
Lägg i varukorg
BACK COVER COPY This third edition of The Genetics of Neurological Disorders incorporates the recent advances in genetics and molecular genetics into this comprehensive classic work. The classification of diseases within the text has been updated in line with the change in practice necessitated by …
Genetic Skin Disorders
Inbunden, 2017
4735 kr
Lägg i varukorg
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 …
Overgrowth Syndromes
A Clinical Guide
Av Giovanni Neri, Luigi Boccuto m. fl.
Inbunden, 2019
1693 kr
Lägg i varukorg
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering …
The Genetics of Renal Disease
Av Frances Flinter, Eamon Maher m. fl.
Inbunden, 2004
5377 kr
Lägg i varukorg
Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of …
Non-Mendelian Genetics in Humans
Av Harry Ostrer
Inbunden, 1998
997 kr
Lägg i varukorg
When rediscovered at the turn of the century, Mendel's laws were found to be applicable to humans, but from the beginning they were fraught with problems. Sex-linked traits and linked genes defied Mendel's rules. Later, other exceptions were found, including sporadic cases, non-penetrance, variable …
Genetic Disorders of Human Sexual Development
Av Leonard Pinsky, Robert P. Erickson m. fl.
Inbunden, 1999
1375 kr
Lägg i varukorg
Authoritative clinical reference on genetic sexual disorders, a field that has been transformed in many areas by molecular genetics.
Transcription Factors and Human Disease
Inbunden, 1998
1205 kr
Lägg i varukorg
Transcription factors are essential mediators of the genetic programs that control development and physiology. This exciting book presents current knowledge of transcription factors from two viewpoints. First, the basic science of transcriptional regulation is discussed. Second, inherited human …
Psychosocial Genetic Counseling
Av Jon Weil
Inbunden, 2000
1658 kr
Lägg i varukorg
Psychosocial issues are integral to all genetic counselling interactions. They include counsellees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxeity and guilt, and the complex process of …
The Genetic Basis of Common Diseases
Av Richard A. King, Jerome I. Rotter m. fl.
Inbunden, 2002
3825 kr
Lägg i varukorg
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The …
Genetics and Public Health in the 21st Century
Using Genetic Information to Improve Health and Prevent Disease
Av Muin J. Khoury, Wylie Burke m. fl.
Inbunden, 2000
1903 kr
Lägg i varukorg
With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the broad mission of public health is to fulfill society's interest in assuring conditions in which …
Landmarks in Medical Genetics
Classic Papers with Commentaries
Inbunden, 2004
2092 kr
Lägg i varukorg
Advances in genetics over the past 50 years have dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field are often …
Mental Retardation and Developmental Delay
Genetic and Epigenetic Factors
Av Moyra Smith
Inbunden, 2005
1367 kr
Lägg i varukorg
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 …
Genetics of Obesity Syndromes
Av Philip R. Beales, I. Sadaf Farooqi m. fl.
Inbunden, 2009
2045 kr
Lägg i varukorg
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 …
Genetic Diseases of the Eye
Inbunden, 2012
5629 kr
Lägg i varukorg
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; …
Genetic Diseases of the Eye
Av Elias I. Traboulsi, Virginia Miraldi Utz m. fl.
Inbunden, 2025
4916 kr
Lägg i varukorg
This highly anticipated third edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. The richly illustrated volume covers every area in ophthalmology such as: malformations, refractive errors, the cornea, glaucoma and …
Genetics of Mitochondrial Diseases
Av HOLT, Ian James Holt
Inbunden, 2003
5422 kr
Lägg i varukorg
Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitochondrial dysfunction. The concept of mitochondrial diseases dates back only as far as the 1960s, and they were given little credence until mutations …
Huntington's Disease
Av Gillian Bates, Peter Harper m. fl.
Inbunden, 2002
3406 kr
Lägg i varukorg
It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how …
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Av R.J. McKinlay Gardner, David J. Amor
Inbunden, 2018
2147 kr
Lägg i varukorg
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping …
Human Malformations and Related Anomalies
Av Roger E. Stevenson, Judith G. Hall m. fl.
Inbunden, 2015
8605 kr
Lägg i varukorg
The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical …
Duchenne Muscular Dystrophy
Av Alan E. H. Emery, Francesco Muntoni m. fl.
Inbunden, 2015
2183 kr
Lägg i varukorg
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant …
Hereditary Hearing Loss and Its Syndromes
Av Helga V. Toriello, Shelley D. Smith
Inbunden, 2013
4454 kr
Lägg i varukorg
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 …
Inborn Errors of Metabolism
From Neonatal Screening to Metabolic Pathways
Av Brendan Lee, Fernando Scaglia
Inbunden, 2014
2577 kr
Lägg i varukorg
Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on …
Genomic Medicine
Principles and Practice
Av Dhavendra Kumar, Charis Eng
Inbunden, 2014
5065 kr
Lägg i varukorg
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new …
Huntington's Disease
Av BATES, Gillian Bates m. fl.
Inbunden, 2014
4369 kr
Lägg i varukorg
This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are …
Inherited Metabolic Disease in Adults
A Clinical Guide
Av Carla E. M. Hollak, Robin Lachmann
Inbunden, 2016
4916 kr
Lägg i varukorg
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a …
