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Emery and Rimoin's principles and pr...

Pyeritz, Reed E.,

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Emery and Rimoin's principles and practice of medical genetics and genomics,. Clinical principles and applications

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Emery and Rimoin's principles and practice of medical genetics and genomics,/ edited by Reed E.Pyeritz, Bruce R. Korf, Wayne W. Grody.
其他題名:	Principles and practice of medical genetics and genomics
其他作者:	Pyeritz, Reed E.,
出版者:	London, U.K. :Academic Press is an imprint of Elsevier, : 2019.,
面頁冊數:	1 online resource (xiii, 397 p.) :ill. (some col.)
附註:	Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz,Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019].
內容註:	A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective.
標題:	Medical genetics. -
電子資源:	https://www.sciencedirect.com/science/book/9780128125366
ISBN:	9780128126844 (electronic bk.)

Emery and Rimoin's principles and practice of medical genetics and genomics,. Clinical principles and applications
Emery and Rimoin's principles and practice of medical genetics and genomics,Clinical principles and applications[electronic resource] /Principles and practice of medical genetics and genomicsedited by Reed E.Pyeritz, Bruce R. Korf, Wayne W. Grody. - Seventh edition. - London, U.K. :Academic Press is an imprint of Elsevier,2019. - 1 online resource (xiii, 397 p.) :ill. (some col.)

Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz,Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019].

Includes bibliographical references and index.

A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective.

"The Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description.

ISBN: 9780128126844 (electronic bk.)Subjects--Topical Terms:

651823
Medical genetics.
Index Terms--Genre/Form:

542853
Electronic books.

LC Class. No.: RB155

Dewey Class. No.: 616/.042

National Library of Medicine Call No.: QZ 50 / E533 2019

Emery and Rimoin's principles and practice of medical genetics and genomics,. Clinical principles and applications
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260 $a London, U.K. : $b Academic Press is an imprint of Elsevier, $c 2019.
300 $a 1 online resource (xiii, 397 p.) : $b ill. (some col.)
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504 $a Includes bibliographical references and index.
505 0 $a A clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective.
520 $a "The Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description.
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