Libri Genetica: Novità e Ultime Uscite
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Genetica umana e medica

Giovanni Neri, Maurizio Genuardi

editore: Edra

pagine: 560

La conoscenza delle malattie dell'uomo non può prescindere dalla comprensione delle loro basi genetiche, sia come causa princi
59,00 56,05

Thompson & Thompson Genetics and Genomics in Medicine

a cura di Ronald Cohn, Stephen SchererAda Hamosh
e altri

editore: Elsevier - Health Sciences Division

pagine: 580

First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries-such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics-latest technologies, and new diagnoses they are enabling. Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions. Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies Full-color text, illustrations, updated line diagrams, and clinical photos End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations USMLE-style and multiple choice questions available as part of the eBook An enhanced eBook version is included with purchase. The eBook allows you to access all the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions New chapter on Epigenetics Clearer and more precise terminology, in response to contemporary and evolving guidelines New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.
61,00 57,95


a cura di G. Binelli, D. Ghisotti

editore: Edises

pagine: 752

Il testo tratta i fondamenti della Genetica dagli aspetti classici fino ai più moderni approcci molecolari
65,00 61,75

Inborn Metabolic Diseases

Diagnosis and Treatment

a cura di Jean-Marie Saudubray, Matthias R. BaumgartnerJohn WalterÁngeles García-Cazorla
e altri

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

pagine: 894

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
208,00 197,60

Textbook of Human Reproductive Genetics

a cura di Stéphane Viville, Karen D. Sermon

editore: Cambridge University Press

pagine: 224

A basic understanding of human genetics is vital for all those working in the field of assisted human reproduction. Genetic makeup can hamper reproduction and insight into this is making genetic diagnosis and counselling increasingly important. This fully updated textbook continues the clear structure of the original edition, beginning with a chapter on the basics of genetics and cytogenetics. Genetic causes of infertility and the effect of epigenetics and transposons on fertility are discussed in detail. Several new chapters are included in this edition, reflecting the advances of the field, including preconception genetic analysis and screening in IVF and mitochondrial genetics. Combining genetics, reproductive biology and medicine, this is an essential text for practitioners in reproductive medicine and geneticists involved in the field looking to improve their knowledge of the subject and provide outstanding patient care.
72,00 68,40

Genetica medica. Concorso per le Specializzazioni di Area Sanitaria non medica

Stefania Palumbo

editore: Edises

pagine: 406

Raccolta di quesiti per la preparazione al concorso per l'accesso alle Scuole di specializzazione di area non medica in Patolo
32,00 30,40

Genetics and Genomics in Medicine

Tom Strachan, Anneke Lucassen

editore: CRC Press

pagine: 534

The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..
65,00 59,80

Genetica medica

Bruno Dallapiccola, Giuseppe Novelli

editore: Edizioni Scientifiche Falco

pagine: 728

A10 anni di distanza dalla pubblicazione della terza edizione del libro, abbiamo accolto le sollecitazioni dei colleghi, degli amici e, soprattutto, di molti studenti, di aggiornare i contenuti del nostro trattato di Genetica Medica. Lo abbiamo fatto seguendo i criteri di essenzialità e rigore, richiesti dai programmi e dai requisiti didattici del Corso di Laurea Magistrale in Medicina e Chirurgia, dei Corsi di Laurea e Laurea Magistrale relativi alle Professioni Sanitarie e delle Scuole di Specializzazione dell’Area Sanitaria. Questo nuovo testo, significativamente rinnovato nei contenuti e nelle immagini, è stato pensato e sviluppato seguendo l’idea che aveva decretato il successo delle precedenti edizioni, quella di raccontare le nozioni fondamentali della nostra disciplina utilizzando un linguaggio semplice ma rigoroso, capace di raggiungere il lettore, per fornirgli gli strumenti necessari a comprendere la Genetica Medica moderna e il suo impatto sulla salute dell’uomo. Una formula a lungo sperimentata sul campo, elemento fondativo del nostro modo di considerare la didattica universitaria.
75,00 66,97

Smith's Recognizable Patterns of Human Malformation

Kenneth Lyons Jones, Marilyn Crandall Jones
e altri

editore: Elsevier - Health Sciences Division

pagine: 1088

Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants-anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling. Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.  Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.  Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.  Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.  Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing-necessary information for counseling patients and parents.  Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
102,00 95,00

Emery's Elements of Medical Genetics and Genomics

Peter D Turnpenny, Sian Ellard
e altri

editore: Elsevier Health Sciences

pagine: 448

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
51,50 48,93

Genetica molecolare umana

Tom Strachan, Andrew P. Read

editore: Zanichelli

pagine: 800

I progressi nell'ambito della genetica molecolare umana sono stati moltissimi nell'ultimo decennio, ma non ci sono dubbi su qu
101,00 95,95
97,70 92,82

Genetica. Quesiti e soluzioni

Silvia Ghirotto, Maria Teresa Vizzari

editore: UTET Università

pagine: 96

La genetica ha un ruolo centrale nella biologia
13,00 12,35

La medicina delle reti. Una nuova visione sistemica della malattia e della cura

Joseph Loscalzo, Edwin K. Silverman
e altri

editore: Aboca Edizioni

pagine: 580

Davanti a noi c'è una nuova frontiera della medicina
38,00 36,10

Elementi di genetica medica

Maurizio Clementi

editore: Edises

pagine: 208

Il volume presenta in maniera essenziale e concisa gli aspetti fondamentali della genetica medica, illustrando i meccanismi al
22,00 20,90

Medical Genetics

Lynn B. Jorde, John C. Carey
e altri

editore: Elsevier - Health Sciences Division

pagine: 352

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
62,00 58,90

Harper's Practical Genetic Counselling

Angus Clarke

editore: Routledge

pagine: 530

Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis.Key features:- Fully updated to provide the very latest information when in a busy consulting room or clinic- Clear and authoritative advice applicable to everyday clinical practice- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technologyThe eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.
69,00 65,55

Genetica. Un approccio molecolare. Ediz. MyLab.

Peter J. Russell

editore: Pearson

pagine: 732

L'attività didattica e di apprendimento del corso è proposta all'interno di un ambiente digitale per lo studio, che ha l'obiet
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25,00 23,75

Elementi di biologia e genetica

Paolo Bonaldo, Concetta Crisafulli
e altri

editore: Edises

pagine: 280

Il volume, rivolto in particolar modo agli studenti dei corsi di laurea in Scienze infermieristiche, fornisce una visione glob
22,00 20,90

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