Genetica Umana E Medica Neri Genuardi.pdf

Genetica Umana E Medica Neri Genuardi.pdf is a PDF file that contains the fourth edition of the textbook Genetica Umana E Medica (Human and Medical Genetics) by Giovanni Neri and Maurizio Genuardi, published by Edra in 2017. This textbook is mainly aimed at students of the degree course in Medicine and Surgery, students of the degree courses in Health Professions and Biological Sciences, as well as specialists in medical genetics.

The textbook is divided into two parts: a first introductory part, which presents the basic concepts (The Bases of Human Genetics), and a second part more clinically oriented (Genetics in Clinical Practice). The fourth edition has been updated to reflect the recent discoveries and advancements of the subject, which is one of the disciplines that has seen more developments in recent years, both at the level of investigation methods and clinical practice. Some of the topics covered in this edition are:

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Atypical mechanisms of inheritance, with the treatment of a greater number of mitochondrial diseases;

Molecular analysis of nucleic acids, with the addition of new diagnostic panels;

Bioinformatics applied to genetic counseling, in which the variants identifiable through new genomic sequencing techniques are addressed in greater depth;

Applications of genetic engineering in medicine, with the treatment of new models of study and innovative techniques of genetic engineering;

Prenatal diagnosis of genetic disease, with the discussion of the new method of analysis of fetal DNA isolated from maternal blood by next generation sequencing;

Autism and major psychoses, a new chapter on a very topical issue.

The textbook is richly illustrated with figures, tables, diagrams, and clinical cases that help to clarify and exemplify the concepts presented. It also includes appendices with useful information on genetic nomenclature, classification of organisms, human gene maps, and online resources for genetics. The textbook is available both in print and in digital format.

Genetica Umana E Medica Neri Genuardi.pdf is a valuable resource for anyone who wants to learn more about human and medical genetics, as well as for those who need to refresh or deepen their knowledge on this fascinating and constantly evolving field.

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