This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
This one-of-a-kind test prep guide helps you to test your knowledge of essential biochemistry and genetics concepts for the USMLE Step 1; practice with 500 USMLE Step 1-style questions with referenced answers; review explanations for right and wrong answers; and build confidence, skills, and knowledge.
PreTest is the closest you can get to seeing the USMLE Step 1 before you take it! 500 USMLE-style questions and answers! Great for course review and the USMLE Step 1, PreTest asks the right questions so you’ll know the right answers. You’ll find 500 clinical-vignette style questions and answers along with complete explanations of correct and incorrect answers. The content has been reviewed by students who recently passed their exams, so you know you are studying the most relevant and up-to-date material possible. No other study guide targets what you really need to know in order to pass like PreTest!
Provides health professionals with a structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.
PreTest is the closest you can get to seeing the USMLE Step 1 before you take it! 500 USMLE-style questions and answers! "Biochemistry and Genetics: PreTest is a valuable resource for students in their board preparation. The author does a good job of presenting complicated information in an easily accessible format with clinically relevant questions and detailed basic science answers." -- Daniel Eskenazi, Fourth Year MD/PhD Candidate, University of Washington School of Medicine "...most of the questions are quite long, simulating the USMLE exam. I really like the detailed explanations. I think these are the best part of the book because they provide a thorough review of the disease processes and concepts. The topic areas covered are very representative of the high yield biochemistry info on the boards." -- David Scoville, Third Year Medical Student, University of Kansas School of Medicine. Great for course review and the USMLE Step 1, PreTest asks the right questions so you’ll know the right answers. You’ll find 500 clinical-vignette style questions and answers along with complete explanations of correct and incorrect answers. The content has been reviewed by students who recently passed their exams, so you know you are studying the most relevant and up-to-date material possible. No other study guide targets what you really need to know in order to pass like PreTest! Content that covers all the must-know topics: High Yield Facts, Storage and Expression of Genetic Information, DNA Structure, Replication and Repair, Gene Expression and Regulation, Acid-Base Equilibria, Amino Acids, Protein Structure, Protein Structure/Function, Intermediary Metabolism, Carbohydrate Metabolism, Bioenergetics adn Energy Metabolism, Lipid, Amino Acid and Nucleotide Metabolism, Nutrition, Vitamins and Minerals, Hormones and Integrated Metabolism, Inheritance Mechanisms and Biochemical Genetics, Inheritance Mechanisms/Risk Calculations,Genetic and Biochemical Diagnosis
PreTest is the closest you can get to seeing the USMLE Step 1 before you take it! 500 USMLE-style questions and answers! Great for course review and the USMLE Step 1, PreTest asks the right questions so you’ll know the right answers. You’ll find 500 clinical-vignette style questions and answers along with complete explanations of correct and incorrect answers. The content has been reviewed by students who recently passed their exams, so you know you are studying the most relevant and up-to-date material possible. No other study guide targets what you really need to know in order to pass like PreTest!
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