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Titlebook: Genetic Counseling; Walter Fuhrmann,Friedrich Vogel Textbook 19833rd edition Springer-Verlag New York Inc. 1983 Chromosom.Erbkrankheit.Gen

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發(fā)表于 2025-3-21 19:45:54 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書(shū)目名稱Genetic Counseling
編輯Walter Fuhrmann,Friedrich Vogel
視頻videohttp://file.papertrans.cn/383/382469/382469.mp4
圖書(shū)封面Titlebook: Genetic Counseling;  Walter Fuhrmann,Friedrich Vogel Textbook 19833rd edition Springer-Verlag New York Inc. 1983 Chromosom.Erbkrankheit.Gen
描述This third edition of Genetic Counseling has been thoroughly revised to reflect current practice. In particular, the chapter on prenatal diagnosis (Chapter 10) has been largely rewritten and considerably expanded, reflecting the rapid develop- ment in this field and its increasing medical importance. This chapter provides a detailed description of the alpha-fetoprotein test and a brief description of ultrasonography for the diagnosis of morphologic defects. Further, we discuss fetoscopy and the sampling of fetal blood with the aid of a fetoscope. In this as in past editions, these descriptions are not meant as working instructions for actual practice, but rather as background for the general practitioner who is dealing with the problems of genetic counseling. We have added a chapter (Chapter 7) on the use of conditional probability (Bayes Principle) for the calculation of more exact specific risk figures. It is true that the daily practice of medicine sees far fewer situations in which these methods can reasonably be applied than some theoreticians like to think. However, the usefulness of these methods has recently increased, especially in cases of X-chromosomal recessive diseases
出版日期Textbook 19833rd edition
關(guān)鍵詞Chromosom; Erbkrankheit; Genetische Beratung; Termination; chromosome
版次3
doihttps://doi.org/10.1007/978-1-4612-5435-5
isbn_softcover978-0-387-90715-4
isbn_ebook978-1-4612-5435-5
copyrightSpringer-Verlag New York Inc. 1983
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zygous for the gene in question; i.e., they carry only one defective gene and the normal allele with its “healthy” information prevents the defect from manifesting itself. Figure 5.1 is a diagram of the typical situation.
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Appearances Deceive, and concepts that are defined and explained in later chapters. Readers are advised to reread the first chapter after they have read the rest. We recommend Chapter 2 as the starting point and Chapter 1 as the conclusion for those readers who have had little or no previous training in genetics.
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發(fā)表于 2025-3-22 07:50:52 | 只看該作者
The Autosomal Recessive Mode of Inheritance and Tests for the Detection of Heterozygotes,zygous for the gene in question; i.e., they carry only one defective gene and the normal allele with its “healthy” information prevents the defect from manifesting itself. Figure 5.1 is a diagram of the typical situation.
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https://doi.org/10.1007/978-1-4612-5435-5Chromosom; Erbkrankheit; Genetische Beratung; Termination; chromosome
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978-0-387-90715-4Springer-Verlag New York Inc. 1983
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