Clinical Genetics in Nursing Practice

Third Edition
Author: Felissa R. Lashley
Publisher: Springer Publishing Company
ISBN: 9780826123664
Category: Health & Fitness
Page: 571
View: 5510
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ABC of Clinical Genetics, 3rd Edition, Helen M. Kingston, 2002

ABC of Clinical Genetics
Author: BMJ-Books Publication
Publisher: Bukupedia
ISBN: N.A
Category: Health & Fitness
Page: 129
View: 2622
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Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the information now available it is necessary to understand the basic principles of inheritance and its chromosomal and molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other specialties are involved in the genetic aspects of the conditions they treat and need to provide information about genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware of the ethical implications of genetic technologies that enable manipulation of the human genome that may have future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied professionals who are not working within the field of genetics, to generate an interest in the subject and to guide readers in the direction of further, more detailed information. In producing this edition, the chapters on molecular genetics and its application to clinical practice have been completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been made to most other chapters so that they reflect current practice and knowledge, although some sections of the previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests. I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter 3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition. Helen M Kingston

Molekulare Humangenetik


Author: Tom Strachan,Andrew P. Read
Publisher: Spektrum Akademischer Verlag
ISBN: 9783827414939
Category: Science
Page: 802
View: 9982
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Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

New Clinical Genetics


Author: Read,Dian Donnai
Publisher: N.A
ISBN: 9781907904677
Category: Medical genetics
Page: 472
View: 7567
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Instructors' comments on new, 3rd, edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It's great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: *the widespread use of next-generation sequencing as a routine diagnostic tool *the checking of a patient's whole exome for the cause of their problem *noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation *a new integrated treatment of epigenetics *mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes *dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: "This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!" Human Genetics "This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge." European Journal of HumanGenetics

ABC of Clinical Genetic, Helen M. Kingston, 3rd Edition, 2002

Clinical Genetic
Author: BMJ Books Publishing
Publisher: Bukupedia
ISBN: 0727916270
Category: Medical
Page: 129
View: 7506
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Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the information now available it is necessary to understand the basic principles of inheritance and its chromosomal and molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other specialties are involved in the genetic aspects of the conditions they treat and need to provide information about genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware of the ethical implications of genetic technologies that enable manipulation of the human genome that may have future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied professionals who are not working within the field of genetics, to generate an interest in the subject and to guide readers in the direction of further, more detailed information. In producing this edition, the chapters on molecular genetics and its application to clinical practice have been completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been made to most other chapters so that they reflect current practice and knowledge, although some sections of the previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests. I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter 3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition. Helen M Kingston

Taschenatlas der Genetik


Author: Eberhard Passarge
Publisher: N.A
ISBN: 9783137595021
Category:
Page: 435
View: 2679
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Human Genetics and Genomics


Author: Bruce R. Korf
Publisher: Wiley-Blackwell
ISBN: 9780632046560
Category: Medical
Page: 288
View: 3782
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Human Genetics and Genomics, Third Edition, is the new rendition of the classic textbook Human Genetics: A Problem-Based Approach. Thoroughly updated and restructured, this brand new edition uses both a classic didactic approach to teach basic genetic concepts and a problem-based approach to demonstrate the clinical applications of genetics in medical practice. By combining both these approaches, Human Genetics and Genomics is suitable both as a textbook for genetics courses, and as a bridge into the clinical environment. The third edition features greater emphasis on cutting edge technologies and the latest genetic issues, and a vast array of new pedagogy, such as: Clinical snapshots covering major genetic disorders Ethical Implications boxes discussing related ethical issues Key summary points at the beginning of each chapter and Q&As at the end of each chapter for self-assessment Hot topics covering new and emerging areas in genetics Recommended reading for each chapter A companion website at www.blackwellpublishing.com/korfgenetics

Awakenings

Das Buch zum Film
Author: Oliver W. Sacks
Publisher: N.A
ISBN: 9783499188787
Category: Dopa
Page: 459
View: 4117
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Aufmerksamkeit und motorisches Lernen


Author: Gabriele Wulf
Publisher: Elsevier,Urban&FischerVerlag
ISBN: 9783437487101
Category: Motorisches Lernen - Aufmerksamkeit
Page: 172
View: 1925
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Entwicklungspsychologie im Kindes- und Jugendalter


Author: Robert Siegler,Nancy Eisenberg,Judy DeLoache,Jenny Saffran
Publisher: Springer-Verlag
ISBN: 3662470284
Category: Psychology
Page: 688
View: 4617
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Wer dieses Standardwerk liest, erhält einen umfassenden Überblick über einschlägige Theorien, moderne Forschungsmethoden und neueste Erkenntnisse zur Kindes- und Jugendentwicklung. Die einfache, klare Sprache sowie zahlreiche Illustrationen und Fallbeispiele machen die Lektüre des Lehrbuchs für Studierende der Entwicklungspsychologie zum echten Vergnügen. Tabellen, Schaubilder, Zusammenfassungen und Praxisbeispiele helfen dabei, den Stoff zu verstehen, zu strukturieren und zu verinnerlichen. Die Inhalte des Werkes gehen dabei teilweise deutlich über den klassischen Lehrstoff für Bachelor-Prüfungen hinaus und vermitteln ein vertieftes Verständnis dafür, wie die Entwicklung in unterschiedlichen Bereichen zusammenhängt, von welchen sozialen und gesellschaftlichen Rahmenbedingungen sie abhängt und wie die Entstehung von Problemen verhindert werden kann. Die Auseinandersetzung mit dieser Lektüre lohnt sich daher nicht nur für die Prüfungsvorbereitung im Bachelor- und Masterstudium. Auch wenn Sie bereits beruflich oder privat mit Kindern und Jugendlichen zu tun haben, wird Ihnen das Buch als wertvolles Nachschlagewerk dienen und immer wieder Lust machen, sich mit den Inhalten auseinanderzusetzen.

Zelluläre Diagnostik

Grundlagen, Methoden und klinische Anwendungen der Durchflusszytometrie ; 163 Tabellen
Author: Ulrich Sack,A. Tarnok,G. Rothe
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805579284
Category: Medical
Page: 1111
View: 6978
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Das vorliegende Buch ist die einzige umfassende, deutschsprachige Darstellung der Durchflusszytometrie und ihrer Anwendungen. Während einige Techniken der Immunphänotypisierung mit der Durchflusszytometrie bereits zu Routineverfahren in der Laboratoriumsmedizin geworden sind, beginnen sich neue Methoden der funktionellen Charakterisierung von Zellen, der Analyse seltener Zellen und der Diagnostik aus komplexen Materialien erst zu etablieren. Durch neue Ansätze wie die objektträgergebundene Zytometrie wird der Einsatz dieser Verfahren weiter zunehmen. Multiparameteranalysen und Miniaturisierung sind weitere Schritte zur Verbesserung der Analytik. Das Buch bietet eine umfassende, fundierte und detaillierte Zusammenstellung aller Aspekte der Durchflusszytometrie in Forschung und Klinik. Neueinsteigern gibt es eine fundierte Einführung, fortgeschrittenen Anwendern spezielle Protokolle und Interpretationshilfen.

Medizinische Mikrobiologie


Author: Ernest Jawetz,Joseph L. Melnick,Edward A. Adelberg
Publisher: Springer-Verlag
ISBN: 3662001551
Category: Science
Page: N.A
View: 398
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Die Autoren haben beabsichtigt, diejenigen Gebiete der medizinischen Mikrobiologie kurz, exakt und in ihrem gegenwärtigen Stand darzustellen, die für die Infektionskrankheiten und ihre Chemotherapie von besonderer Bedeutung sind. Das Buch wendet sich in erster Linie an Medizinstudenten, außerdem an alle Ärzte in Krankenhaus und Praxis. Die Notwendigkeit für ein klares Verständnis der mlkrobiologischen Grundtatsachen ist in den letzten Jahren stärker geworden, da in Biochemie, Virologie und Chemotherapie so wie auf weiteren, die Medizin beeinflussenden Gebieten bedeutende Entwicklungen statt gefunden haben. Ein wesendicher Teil dieses Lehrbuches ist deswegen der Darstellung der Grundlagen gewidmet, wodurch sich das Buch auch für die Einführung des Studenten in den mikrobiologischen Kurs als brauchbar erweisen wird. Für die neue Auflage wurde ein Kapitel über Virus und Krebs neu geschrieben, und das Kapitel über antimikrobielle Chemotherapie wurde von Grund auf neu bearbeitet. Die Autoren freuen sich, bei dem Erscheinen der 7. amerikanischen Ausgabe von einer spanischen, deutschen, italienischen und griechischen Ausgabe, sowie von der Vorbereitung für eine serbokroatische Übersetzung berichten zu können. Die Autoren möchten nochmals allen danken, die ihnen bei der Bearbeitung dieser Auf lage behilflich waren, und die es ihnen durch ihre Kommentare und ihre Kritik ermöglicht haben, die in 2jährigen Abständen erscheinenden Revisionen dieses Buches auf dem neu esten Stand zu halten. ERNEsr JAWETZ JOSEPH L MELNICK San Frandsco, August 1966 EnWARD A AnELBERG III Inhaltsverzeichnis 1 Kapitell Die ~lt der Mikroben 8 Kapitel 2 Cytologie der Bakterien Optische Methoden 8 9 Eukaryote Zellstrukturen Prokaryote Zellstrukturen . 12 14 Cytoplasmatische Strukturen. 27 Färbeverfahren .

Current Diagnosis & Treatment in Rheumatology, Third Edition


Author: John Imboden,David Hellmann,John Stone
Publisher: McGraw Hill Professional
ISBN: 0071638067
Category: Medical
Page: 600
View: 6964
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The most up-to-date and readily accessible rheumatology resource available The third edition of this trusted quick-reference guide has everything you need to keep pace with this fast-moving field—presented in the acclaimed CURRENT format. A practical reference for primary care providers, the book simplifies the treatment of difficult-to-manage rheumatologic diseases and disorders, such as arthritis, lupus, and sarcoidosis. Features NEW full-color photographs NEW chapters on clinical genetics, drug-induced syndromes, and metabolic myopathies Straightforward, expert coverage of the entire range of rheumatology disorders Full explanations of common and major disorders in clinical immunology Concise chapters geared to the needs of trainees and clinicians First section that addresses common but difficult-to-diagnose rheumatologic complaints—and delivers key “approach to the patient” strategies

The Bipolar Disorder Survival Guide, Third Edition

What You and Your Family Need to Know
Author: David J. Miklowitz
Publisher: Guilford Publications
ISBN: 1462537278
Category: Medical
Page: 444
View: 2995
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Bipolar disorder is a lifelong challenge--but it doesn't have to rule your life. Find the science-based information you need in the revised third edition of this indispensable guide. Trusted authority Dr. David J. Miklowitz shares proven strategies for managing your illness or supporting a loved one with the disorder. Learn specific steps to cope with mood episodes, reduce recurrences, avoid misdiagnosis, get the most out of treatment, resolve family conflicts, and make lifestyle changes to stay well. Updated throughout, the third edition has a new chapter on kids and teens; the latest facts on medications and therapy, including important advances in personalized care; and expanded coverage of the bipolar II subtype. It features boxes on complementary and alternative treatments and provides downloadable practical tools.

Handbook of Depression, Third Edition


Author: Ian H. Gotlib,Constance L. Hammen
Publisher: Guilford Publications
ISBN: 1462524168
Category: Psychology
Page: 642
View: 8369
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An authoritative reference on depression and mood disorders, this volume brings together the field's preeminent researchers. All aspects of unipolar and bipolar depression are addressed, from genetics, neurobiology, and social-contextual risk factors to the most effective approaches to assessment and clinical management. Contributors review what is known about depression in specific populations, exploring developmental issues across the lifespan as well as gender and cultural variables. Effective psychosocial and biological treatments are described in detail. Each chapter offers a definitive statement of current theories, methods, and findings, and identifies key questions that remain to be answered. New to This Edition *Incorporates cutting-edge research (including findings from international, multisite, integrative, and longitudinal studies), treatment advances, and changes to diagnostic criteria in DSM-5. *Chapters on comorbidity with anxiety disorders and emotional functioning in depression. *Expanded coverage of bipolar disorder, now the focus of three chapters (clinical features, risk and etiological factors, and treatment). *Many new authors and extensively revised chapters.

The Psychiatric Interview in Clinical Practice, Third Edition


Author: Roger A. MacKinnon, M.D.,Robert Michels, M.D.,Peter J. Buckley, M.D.
Publisher: American Psychiatric Pub
ISBN: 161537034X
Category: Medical
Page: 704
View: 2164
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Much has changed in the critical interval since the last edition of The Psychiatric Interview in Clinical Practice was published. This new, third edition provides an up-to-date examination of the psychiatric interview that reflects changes introduced in DSM-5, while continuing to recognize that describing symptoms and establishing a diagnosis should command only a portion of the clinician's attention, and that a patient's personal history must be elicited and character structure addressed in the clinical engagement. Significant advances have been made in biological psychiatry, and research in genetics, cognitive neuroscience, psychopharmacology, brain imaging, and the neurosciences in general continues apace, informing the culture of psychiatry and providing growing insight into the etiology of mental illnesses. However, the book reflects the authors' belief that virtually all major psychiatric disorders are complex amalgams of genetic disposition and environmental influences. In this context, the psychiatric interview is a vitally important dialogue, and effective strategies are modeled through the use of clinical vignettes taken from the authors' experience. Topics and features of this new edition include: * An updating of diagnostic considerations to reflect the publication of DSM-5.* A chapter on interviewing the patient with dissociative identity disorder (DID), which is now recognized as an entity distinct from other psychopathological conditions and rooted in childhood trauma. The frequency of DID in the ambulatory setting has been repeatedly demonstrated and speaks to the need to accurately diagnose and treat this often-debilitating disorder.* An entirely updated chapter on interviewing the traumatized patient.* A section on interviewing the patient of different background. The book emphasizes that the subjective experience of being "different" is universal and that psychiatry is enriched by recognizing and exploring that experience, validating its existence, and attempting to understand how it influences the patient's life.* Continued emphasis on and inclusion of relevant case vignettes drawn from the authors' clinical experiences.* Structural consistency across chapters, with sections on psychopathology and psychodynamics, differential diagnosis, management of the interview, transference and countertransference, and so forth, which reinforces skills acquisition and makes the text easy to use. By creating a text that is aligned with DSM-5 while continuing to stress the importance of eliciting the patient's subjective experience and achieving a therapeutic dialogue, the authors of The Psychiatric Interview in Clinical Practice have done a great service to the profession and provided much-needed guidance to mental health clinicians and trainees.

Heart Failure

A Companion to Braunwald's Heart Disease
Author: Douglas L. Mann,G. Michael Felker
Publisher: Elsevier Health Sciences
ISBN: 0323315682
Category: Medical
Page: 832
View: 8125
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Lead editor of Braunwald's Heart Disease, Dr. Douglas L. Mann, and nationally and internationally recognized heart failure expert Dr. G. Michael Felker, bring you the latest, definitive state-of-the art information on heart failure in this outstanding Braunwald's companion volume. Heart Failure, 3rd Edition keeps you current with recent developments in the field, improved patient management strategies, and new drug therapies and implantable devices that will make a difference in your patients' lives and your practice.

Achtsam essen - achtsam leben

Der buddhistische Weg zum gesunden Gewicht
Author: Thich Nhat Hanh,Dr. Lilian Cheung
Publisher: O.W. Barth eBook
ISBN: 3426421887
Category: Religion
Page: 304
View: 9876
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Wie kann man bewusst leben und ein gesundes Gewicht erlangen? Der Meditationslehrer Thich Nhat Hanh und die Ernährungswissenschaftlerin Dr. Lilian Cheung entwickeln eine neue Sicht auf das Thema Ernährung, in der die Bewusstseinshaltung beim Essen wirksamer ist als alle Kuren. Sie kombinieren zeitlose Prinzipien der buddhistischen Lehre mit modernen wissenschaftlichen Erkenntnissen. Mit vielen praktischen Anregungen, wie man aus alten Gewohnheiten aussteigt, auf seine natürlichen Bedürfnisse achtet, achtsamer genießt und damit den Weg heraus aus der üblichen Diätenfalle findet. Sie möchten mehr zum Thema Gesunde Ernährung lesen? Auf unserem Portal einfachganzleben.de finden Sie einfache Rezepte, gesunde Ernährungstipps und alles Wissenswerte zu neuen Food-Trends.

Embryologie

Entwicklungsstadien, Frühentwicklung, Organogenese, Klinik
Author: Keith L. Moore,Trivedi V. N. Persaud
Publisher: Elsevier,Urban&FischerVerlag
ISBN: 9783437411120
Category: Embryology
Page: 595
View: 8834
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Cancer Cytogenetics

Chromosomal and Molecular Genetic Abberations of Tumor Cells
Author: Sverre Heim,Felix Mitelman
Publisher: John Wiley & Sons
ISBN: 1118210581
Category: Medical
Page: 752
View: 3135
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