Clinical Genetics

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Oxford Desk Reference

Helen V. Firth,Jane A. Hurst,Judith G. Hall

Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Page : 708 pages
File Size : 53,5 Mb
Release : 2005
Category : Medical
ISBN : 0192628968

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Oxford Desk Reference by Helen V. Firth,Jane A. Hurst,Judith G. Hall Pdf

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Medical Genetics

Lynn B. Jorde

Author : Lynn B. Jorde
Publisher : Unknown
Page : 392 pages
File Size : 51,7 Mb
Release : 2006
Category : Genetic disorders
ISBN : UOM:39015063152527

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Medical Genetics by Lynn B. Jorde Pdf

'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

Clinical Ophthalmic Genetics and Genomics

Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis

Author : Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis
Publisher : Elsevier
Page : 490 pages
File Size : 53,8 Mb
Release : 2022-01-20
Category : Medical
ISBN : 9780128139448

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Clinical Ophthalmic Genetics and Genomics by Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis Pdf

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Handbook of Clinical Adult Genetics and Genomics

Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble

Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Page : 530 pages
File Size : 41,9 Mb
Release : 2020-04-10
Category : Science
ISBN : 9780128173459

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Handbook of Clinical Adult Genetics and Genomics by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble Pdf

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

New Clinical Genetics, fourth edition

Andrew Read,Dian Donnai

Author : Andrew Read,Dian Donnai
Publisher : Scion Publishing Ltd
Page : 470 pages
File Size : 48,6 Mb
Release : 2020-10-23
Category : Medical
ISBN : 9781911510741

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New Clinical Genetics, fourth edition by Andrew Read,Dian Donnai Pdf

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 tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation 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

Uniparental Disomy (UPD) in Clinical Genetics

Thomas Liehr

Author : Thomas Liehr
Publisher : Springer
Page : 201 pages
File Size : 48,8 Mb
Release : 2014-06-26
Category : Medical
ISBN : 9783642552885

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Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr Pdf

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 54,6 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Clinical Genetics and Genomics of Aging

Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura

Author : Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura
Publisher : Springer
Page : 0 pages
File Size : 49,7 Mb
Release : 2021-04-14
Category : Medical
ISBN : 3030409570

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Clinical Genetics and Genomics of Aging by Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura Pdf

The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.

Medical Genetics

G. Bradley Schaefer,Thompson Jr.

Author : G. Bradley Schaefer,Thompson Jr.
Publisher : McGraw Hill Professional
Page : 452 pages
File Size : 46,8 Mb
Release : 2013-11-22
Category : Medical
ISBN : 9780071819282

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Medical Genetics by G. Bradley Schaefer,Thompson Jr. Pdf

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Clinical Genetics

Golder Wilson

Author : Golder Wilson
Publisher : Wiley-Liss
Page : 500 pages
File Size : 46,9 Mb
Release : 2000
Category : Medical
ISBN : UOM:39015050314163

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Clinical Genetics by Golder Wilson Pdf

With the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.

Clinical Precision Medicine

Judy S. Crabtree

Author : Judy S. Crabtree
Publisher : Academic Press
Page : 114 pages
File Size : 43,8 Mb
Release : 2019-11-15
Category : Medical
ISBN : 9780128204023

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Clinical Precision Medicine by Judy S. Crabtree Pdf

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Medical Genetics at a Glance

Dorian J. Pritchard,Bruce R. Korf

Author : Dorian J. Pritchard,Bruce R. Korf
Publisher : John Wiley & Sons
Page : 243 pages
File Size : 40,5 Mb
Release : 2013-09-23
Category : Medical
ISBN : 9780470656549

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Medical Genetics at a Glance by Dorian J. Pritchard,Bruce R. Korf Pdf

Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition

Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG

Author : Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG
Publisher : Springer Publishing Company
Page : 425 pages
File Size : 47,8 Mb
Release : 2015-09-16
Category : Medical
ISBN : 9780826129130

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Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition by Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG Pdf

Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students

Clinical Cardiogenetics

H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt

Author : H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt
Publisher : Springer Science & Business Media
Page : 453 pages
File Size : 49,8 Mb
Release : 2010-12-25
Category : Medical
ISBN : 9781849964715

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Clinical Cardiogenetics by H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt Pdf

Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

Emery's Elements of Medical Genetics

Robert F. Mueller,Ian D. Young,Alan E. H. Emery

Author : Robert F. Mueller,Ian D. Young,Alan E. H. Emery
Publisher : Unknown
Page : 388 pages
File Size : 47,5 Mb
Release : 2001
Category : Medical
ISBN : UOM:39015053139039

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Emery's Elements of Medical Genetics by Robert F. Mueller,Ian D. Young,Alan E. H. Emery Pdf

Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Clinical Genetics

Oxford Desk Reference by Helen V. Firth,Jane A. Hurst,Judith G. Hall Pdf

Medical Genetics by Lynn B. Jorde Pdf

Clinical Ophthalmic Genetics and Genomics by Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis Pdf

Handbook of Clinical Adult Genetics and Genomics by Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble Pdf

New Clinical Genetics, fourth edition by Andrew Read,Dian Donnai Pdf

Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr Pdf

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

Clinical Genetics and Genomics of Aging by Juan Carlos Gomez-Verjan,Nadia Alejandra Rivero-Segura Pdf

Medical Genetics by G. Bradley Schaefer,Thompson Jr. Pdf

Clinical Genetics by Golder Wilson Pdf

Clinical Precision Medicine by Judy S. Crabtree Pdf

Medical Genetics at a Glance by Dorian J. Pritchard,Bruce R. Korf Pdf

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition by Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG Pdf

Clinical Cardiogenetics by H.F. Baars,P.A.F.M. Doevendans,J.J. van der Smagt Pdf

Emery's Elements of Medical Genetics by Robert F. Mueller,Ian D. Young,Alan E. H. Emery Pdf

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