Human Chromosome Atlas
portes grátis
Human Chromosome Atlas
Introduction to Diagnostics of Structural Aberrations
Mehdipour, Parvin; Karimzad Hagh, Javad; Schwanitz, Gesa; Behrend, Claudia; Schott, Heinz
Springer International Publishing AG
03/2023
388
Dura
Inglês
9783031105876
15 a 20 dias
Descrição não disponível.
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.
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Chromosome rearrangements;Heteromorphisms;Chromosome analyses by banding techniques;FISH;Genetic counselling;Structural chromosome aberrations;DNA Mutations;Cytogenetics;Human karyotype;Karyogram;Genetic diagnostics;Genetic testing
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.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
