Human Chromosome Atlas Introduction to Diagnostics of Structural Aberrations
tarafından
Behrend, Claudia. author.
Başlık
:
Human Chromosome Atlas Introduction to Diagnostics of Structural Aberrations
Yazar
:
Behrend, Claudia. author.
ISBN
:
9783031105883
Basım Bilgisi
:
2nd ed. 2023.
Fiziksel Tanımlama
:
XI, 388 p. 98 illus. online resource.
İçerik
:
Introduction: Social Attitude towards Disabled People in Different Areas and Cultures -- Role of Ethics Committees -- International Quality Control in the Field of Diagnostics -- Structural Chromosom Abarrations -- Mutations in Non-coding DNA Regions. Single Case Presentations of Intrachromosomal Rearrangements: Inversions -- Deletions -- Duplications -- Ring Chromosomes -- Isochromosomes. Single Case Presentations of Interchromosomal Rearrangements: Translocations -- Insertions -- Complex Chromosome Rearrangements (CCR) -- Marker Chromosomes -- Cases of Intra- and Interchromosomal Mutation in Polymorphic Regions. Guidelines to Clinical Questions and Practical Approaches: Genetic Counselling Procedures -- Life of Persons with Chromosomal Disorders -- Support Groups for Chromosomal Disorders -- Diagnosis and Therapy -- Outlook.
Konu Terimleri
:
Medical genetics.
Diagnosis.
Chromosomes.
Genetic disorders.
Genetic counseling.
Genetic Service.
Yazar Ek Girişi
:
Karimzad Hagh, Javad.
Mehdipour, Parvin.
Schott, Heinz.
Schwanitz, Gesa.
Tüzel Kişi Ek Girişi
:
SpringerLink (Online service)
Elektronik Erişim
:
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