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

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"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 medica...

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Bibliographic Details
Call Number:Libro Electrónico
Other Authors: Pyeritz, Reed E. (Editor), Korf, Bruce R. (Editor), Grody, Wayne W. (Editor)
Format: Electronic eBook
Language:Inglés
Published: London, U.K. : Academic Press is an imprint of Elsevier, [2019]
Edition:Seventh edition.
Subjects:
Medical genetics.
Genomics.
Genetic disorders.
Genetics, Medical
Genetic Diseases, Inborn
Genomics
Génétique médicale.
Génomique.
Maladies génétiques.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
Genetic disorders
Medical genetics
Internet Resources.
Online Access:Texto completo
Table of Contents:
  • 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.

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