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Emery and Rimoin's principles and practice of medical genetics and genomics : developmental disorders /

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics includes the latest information on topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field...

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Bibliografski detalji
Daljnji autori: Pyeritz, Reed E. (Urednik), Korf, Bruce R. (Urednik), Grody, Wayne W. (Urednik)
Format: Elektronički e-knjiga
Jezik:engleski
Izdano: London, United Kingdom : Academic Press, [2024]
Izdanje:Seventh edition.
Teme:
Developmental disabilities > Genetic aspects.
Medical genetics.
Genomics.
Child development deviations.
Genetics, Medical
Genomics
Developmental Disabilities
Génétique médicale.
Troubles du développement > Aspect génétique.
Génomique.
Troubles du développement chez l'enfant.
Developmental disabilities > Genetic aspects
Medical genetics
Online pristup:ScienceDirect
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Sadržaj:
  • Human developmental genetics
  • Clefting, dental, and craniofacial syndromes
  • Craniosynostosis
  • Autosomal trisomies
  • Sex-chromosome abnormalities
  • Deletions and other structural abnormalities of the autosomes
  • Hereditary hearing impairment
  • Color vision defects
  • Optic atrophy
  • Glaucoma
  • Genetic disorders of the cornea
  • Inherited cataracts and other genetic disorders of the lens
  • Inherited retinal and choroidal dystrophies
  • Genetics of strabismus
  • Anophthalmia, microphthalmia, and uveal coloboma.

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