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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics

Editat de Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
en Limba Engleză Hardback – 4 noi 2021
**Selected for Doody’s Core Titles® 2024 in Clinical Genetics** 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
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Specificații

ISBN-13: 9780128152362
ISBN-10: 0128152362
Pagini: 318
Dimensiuni: 191 x 235 x 27 mm
Greutate: 0.8 kg
Ediția:7
Editura: ELSEVIER SCIENCE

Public țintă

Students, physicians, and researchers in the field of medical genetics and personalized medicine; clinical geneticists, molecular pathologists, clinical cytogeneticists, primary care physicians (including oncologists, pediatricians, neurologists, cardiologists, and neonatologists), genetic counselors, bio-informaticists; pharmacologists

Cuprins

1 Introduction to Perinatal Disorders and Reproductive Genetics
Susan J. Gross
2 Prenatal Screening for Neural Tube Defects and Aneuploidy
Robert G. Best
3 Techniques for Prenatal Diagnosis
Lee P. Shulman, Jeffrey S. Dungan and Andrew F. Wagner
4 Neonatal Screening
Inderneel Sahai and Richard W. Erbe
5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts
Joe Leigh Simpson
6 Genetics of Male Infertility
Csilla Krausz, Viktoria Rosta, Ronald S. Swerdloff and Christina Wang
7 The Genetics of Disorders Affecting the Premature Newborn
Aaron R. Prosnitz, Jeffrey R. Gruen and Vineet Bhandari
8 Fetal Loss
Rhona Schreck, John Paul Govindavari and John Williams III
9 Preeclampsia
Anthony R. Gregg
10 Noninvasive Prenatal Testing and Noninvasive Prenatal Screening
Charles M. Strom
11 Preimplantation Genetic Testing
Svetlana A. Yatsenko and Aleksandar Rajkovic
12 Expanded Carrier Screening
Ronald J. Wapner, Katie Johansen Taber, Gabriel Lazarin and James D. Goldberg