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6 produkter

New Clinical Genetics, fourth edition
A guide to genomic medicine
AvAndrew Read,Dian Donnai
Häftad, Engelska, 2020
719 kr
Skickas inom 5-8 vardagar
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine.New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding.Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking.Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders.The unique case-based structure and format remains the same, but substantial new material has been added to cover:polygenic risk scores – now starting to become useful clinical service toolspreimplantation diagnosisnoninvasive prenatal diagnosiscompanion diagnostics for prescribed drugsliquid biopsies in cancerepigenetics and gene regulationthe widespread use of next-generation sequencing as a routine diagnostic toolthe checking of a patient’s whole exome for the cause of their problem
Antenatal Diagnosis of Fetal Abnormalities
AvDian Donnai,James O. Drife
E-bok
PDF, Engelska, 2012
732 kr
Läs direkt efter köp
In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers.
Antenatal Diagnosis of Fetal Abnormalities
AvJames O. Drife,Dian Donnai
Häftad, Engelska, 2011
562 kr
Skickas inom 10-15 vardagar
In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers.
New Clinical Genetics, fourth edition
A guide to genomic medicine
AvDian Donnai,Andrew Read
E-bok
PDF, Engelska, 2020
661 kr
Läs direkt efter köp
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine.New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding.Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking.Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders.The unique case-based structure and format remains the same, but substantial new material has been added to cover:polygenic risk scores – now starting to become useful clinical service toolspreimplantation diagnosisnoninvasive prenatal diagnosiscompanion diagnostics for prescribed drugsliquid biopsies in cancerepigenetics and gene regulationthe widespread use of next-generation sequencing as a routine diagnostic toolthe checking of a patient’s whole exome for the cause of their problem
Angewandte Humangenetik
AvAndrew Read,Dian Donnaim. fl.
Inbunden, Tyska, 2008
598 kr
Skickas inom 5-8 vardagar
Angewandte Humangenetik
AvDian Donnai,Andrew Readm. fl.
E-bok
PDF, Tyska, 2008
583 kr
Läs direkt efter köp

Das Buch vermittelt umfassendes, anwendungsorientiertes Wissen im Bereich Humangenetik. Aufgrund der Autorenschaft von Andrew Read u. Dian Donnai wurde das Fach von wissenschaftlicher und klinischer Perspektive beleuchtet. Insbesondere durch 27 authentische Fälle, die in sämtlichen Kapiteln immer wieder aufgegriffen werden, wird der Lernstoff lebendig und auch spannend dargestellt. Der Leser kann sich in einzelne Patientengeschichten hineinversetzen und erwirbt das relevante Wissen aus einer quasi-realen Situation heraus. Das molekularbiologische und genetische Hintergrundwissen wird didaktisch sehr anschaulich in Exkursen und Hintergrundkapiteln beschrieben. Auch die renommierten Autoren, die zahlreichen fantastischen Abbildungen, der einmalige didaktische Aufbau und die Überprüfungsfragen (mit Antworten) verhalfen dem Titel zur Platzierung auf den Listen zahlreicher führender Universitäten - darunter Harvard Medical School - in Großbritannien und den USA.

Das Fach Humangenetik hat an Bedeutung gewonnen, was auch durch die dessen Aufwertung zum Prüfungsfach in der neuen Approbationsordnung für Ärzte erkennbar ist. Aber auch bei Pädiatern u.Gynäkologen ist zunehmendes Interesse zu verzeichnen, da mit dem Alter der Eltern das Risiko für genetische Anomalien des Kindes steigt und dementsprechendes Wissen erwartet wird. Das Lehrbuch erklärt u. a. genetische Grundlagen, Stammbaumanalyse, Chromosomen, DNA, Mutationen, Epigenetik, Populationsgenetik und Krebs. Die Herausgeber der Lizenzausgabe - Prof. Zschocke (Heidelberg) u. Prof. Riess (Tübingen) sind ihrerseits internationale Kapazitäten des Fachgebietes. Sie haben die Übersetzung den deutschen Verhältnissen angepasst und auch einen zusätzlichen Fall zur Sterilität eingefügt.

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Dian Donnai – författare

New Clinical Genetics, fourth edition

Antenatal Diagnosis of Fetal Abnormalities

Antenatal Diagnosis of Fetal Abnormalities

New Clinical Genetics, fourth edition

Angewandte Humangenetik

Angewandte Humangenetik

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