Il tuo browser non supporta JavaScript!
Nelle nostre librerie trovi anche letteratura, libri per l’infanzia, filosofia, diritto e molto altro! Scopri dove siamo

Malattie genetiche

85,00 72,25

Genetics of Bone Biology and Skeletal Disease

John Eisman, Michael P. Whyte
e altri

editore: Academic Press Inc

pagine: 878

Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets.
160,00 136,00

Pediatric Cancer Genetics

Meagan Farmer, Nathaniel H. Robin

editore: Elsevier - Health Sciences Division

pagine: 350

Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Drs. Nathaniel H. Robin and Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children with cancer, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. Consolidates today's available information and guidance in this timely area into one convenient resource.
77,00 65,45

Inborn Metabolic Diseases

Diagnosis and Treatment

Jean-Marie Saudubray, John Walter
e altri

editore: Springer-Verlag Berlin and Heidelberg GmbH & Co. K

pagine: 689

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications - Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles - Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
176,79 150,27

Il gene del diavolo. Le malattie genetiche, le loro metafore, il sogno e la paura di eliminarle

Maurice A. Baroukh

editore: Bollati Boringhieri

pagine: 186

È bastata una generazione di medici per mutare radicalmente la prospettiva sulle malattie genetiche. Un tempo erano accettate come una fatalità; oggi, in molti casi, possono essere governate, tanto che alcune di loro sono quasi sparite, come la talassemia, scomparsa da Cipro grazie a una decisione politica, o la malattia di Tay-Sachs, non più diffusa come un tempo tra gli ebrei ashkenaziti. Anche la fibrosi cistica si è ridimensionata in alcune parti del mondo e dell'Italia. La malattia genetica è come una "maledizione familiare", serpeggia tra le generazioni, scompare e ricompare. È cosa ben diversa da un'epidemia infettiva: mentre virus e batteri sono nemici esterni, visibili, identificabili, contro i quali è lecito, persino doveroso combattere, i geni non lo sono: la malattia genetica la porti dentro, è parte di te, è il diavolo in corpo. L'intervento sanitario contro le malattie ereditarie ha una valenza sociale. È una questione antropologica prima ancora che medica, dal momento che non mira a guarire i malati, bensì a diminuire l'incidenza del male nelle generazioni future. Sono stati diversi i modelli di intervento per il controllo delle malattie genetiche: si trovano in contesti culturali differenti e hanno esiti e motivazioni diverse, ben descritte in questo libro. Oggi si torna a parlare di programmi "neo-eugenetici", ma ancora pesano le metafore che il "gene del diavolo" porta con sé, le stigmatizzazioni sociali e persino, in certi casi, l'identità etnica di intere popolazioni.
15,00 12,75

Human Malformations and Related Anomalies

Benjamin D. Solomon, David B. Everman
e altri

editore: Oxford University Press Inc

pagine: 1000

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 presentation, associated anomalies, treatment, and prognosis.
325,00 276,25

Smith's Recognizable Patterns of Human Deformation

John M. Graham, Pedro A. Sanchez-Lara

editore: Saunders

pagine: 416

Perfect for residents, pediatricians, practitioners, or parents seeking further information, Smith's Recognizable Patterns of Human Deformation provides evidence-based management for a range of common pediatric problems affecting the limbs and craniofacial region. The only source devoted to the diagnoses and management of birth defects resulting from mechanical forces, this reference supplies the essential guidance needed for timely intervention and effective treatment.
77,00 65,45

Genetica e genomica Umane

Bruce R. Korf, Mira B. Irons

editore: Edi. Ermes

pagine: 270

28,00 23,80

Introduction to Neurogenic Communication Disorders

Malcolm R. McNeil, Robert H. Brookshire

editore: Mosby

pagine: 512

Get the tools you need to evaluate, diagnose, and treat patients with neurogenic communication disorders! Introduction to Neurogenic Communication Disorders, 8th Edition provides a solid foundation in the neurology of communication, as well as the causes, symptoms, diagnosis, assessment, and management of commonly encountered neurogenic communication disorders in adults. A concise, evidence-based approach shows how to measure and treat abnormalities such as aphasia, dysarthria, right-hemisphere syndrome, and traumatic brain injury syndrome. This edition is updated with new coverage of laboratory tests, blast-related injuries to the head, and medications for dementia. Created by neurogenic communication disorders educator Robert H. Brookshire and continued by Malcolm R. McNeil, this bestselling text will enhance your skills in the rehabilitation of clients with neurogenic communication disorders.
79,00 67,15

Genetica

Sergio Pimpinelli

editore: CEA

pagine: 624

67,50 58,73

Hereditary hearing loss and its syndromes

Helga V. Toriello

editore: Oxford University Press

pagine: 732

175,00 148,75

Human Genetics and Genomics

Includes Wiley e-Text

Bruce R. Korf, Mira B. Irons

editore: Wiley-Blackwell (an imprint of John Wiley & Sons Ltd)

pagine: 280

This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression.Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the enhanced Wiley Desktop Edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com , including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
50,00 42,50

Genetica. Principi di analisi formale

Anthony J. Griffiths, Susan R. Wessler
e altri

editore: Zanichelli

pagine: 880

Gli aggiornamenti contenuti in questa edizione riguardano in particolare: I marcatori molecolari, essenziali per l'identificaz
95,50 83,09

Genetica molecolare umana

Tom Strachan, Andrew P. Read

editore: Zanichelli

pagine: 896

La sequenza "finita" del genoma umano è stata pubblicata nel 2004 e da allora siamo entrati in un'era in cui ogni anno viene p
98,00 85,26

Genetic Diseases of the Eye

Elias I. Traboulsi

editore: Oxford University Press Inc

pagine: 994

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; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists. New to this edition: - Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so. - A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases. - A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book. - A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field. - A new section on cancer genetics and the eye - New chapters on ocular imaging and gene therapy for inherited eye diseases.
180,00 153,00

Chromosome Abnormalities and Genetic Counseling

Grant R. Sutherland, Lisa G. Shaffer
e altri

editore: Oxford University Press Inc

pagine: 648

Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.
73,00 62,05

Common Malformations

LEWIS B. HOLMES

editore: Oxford University Press Inc

pagine: 480

This extensively illustrated reference work is designed for health professionals who care for newborn infants including neonatologists, pediatricians, NICU nurses, pediatric neurologists, pediatric surgeons, geneticists, and genetic counselors. It describes the most common malformations and draws from many sources the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling. The text also covers minor anomalies, birthmarks and includes dozens of charts of anthropologic measurements, material that is needed in the initial physical examination to describe an infant's physical features. With over 400 photographs and original illustrations, Dr. Holmes has created an authoritative, well organized, and easy to use reference guide to common malformations of the infant, which will become an invaluable tool in hospitals and neonatal clinics across the world. The text is grounded in research gathered from the Active Malformations Surveillance Program conducted since 1972 at Brigham and Women's Hospital in Boston, Massachusetts. The program began as a three year study which monitored over 18,155 births and aimed to determine the frequency of many major malformations. The study was expanded to include minor physical features and birth marks. This text includes many never-before published photographs from these studies, as well as other major research findings in this area.
110,00 93,50

Emery's Elements of Medical Genetics

With STUDENT CONSULT Online Access

Peter D. Turnpenny, Sian Ellard

editore: Churchill Livingstone

pagine: 464

Master the genetics you need to know with the updated 14th Edition of "Emery's Elements of Medical Genetics" by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient online access. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice.
47,00 39,95

OBESITA' E GENETICA OLTRE LO STILE

7° RAPPORTO SULL' OBESITA' IN ITALIA

a cura di Istituto auxologico italiano

editore: Il Pensiero Scientifico Editore

pagine: 305

35,00 29,75

Genetica umana. Concetti e applicazioni

Ricki Lewis

editore: Piccin-Nuova Libraria

pagine: 562

35,00 29,75

Inserire il codice per il download.

Inserire il codice attivare il servizio.