This textbook from Elsevier is an English medium book on medical genetics and genomics written by Peter Turnpenny, Sian Ellard and Ruth Cleaver, now in its 16th Edition, with an enhanced digital version included. It is prepared for MBBS students, whose anatomy and preclinical curriculum now includes genetics, and for postgraduates and clinicians who need genomics in its current clinical form. The book builds from the basics — the structure of DNA and chromosomes, patterns of inheritance, mutation and chromosomal abnormalities — through to the areas that have changed most in recent years: next-generation sequencing, genomic testing in clinical practice, cancer genetics, pharmacogenomics, prenatal and newborn screening, and genetic counselling with its ethical dimensions. Clinical illustrations, pedigrees and case examples run throughout. All content is presented in English language.
Key Features:
English medium book — complete content, terminology and explanations in English
Written by Peter Turnpenny, Sian Ellard and Ruth Cleaver
16th Edition with revised and updated content
Enhanced digital version included with the book
Prepared for MBBS students and postgraduate learners
DNA, chromosomes and the basis of inheritance
Patterns of inheritance explained with pedigrees
Mutation, chromosomal abnormalities and syndromes
Next-generation sequencing and genomic technologies
Genomic testing in current clinical practice
Cancer genetics and pharmacogenomics covered
Prenatal diagnosis and newborn screening
Genetic counselling with ethical and legal considerations
Clinical illustrations and case examples throughout
From Elsevier
MBBS एवं चिकित्सा आनुवंशिकी के विद्यार्थियों तथा स्नातकोत्तर अभ्यर्थियों के लिए एल्सेवियर की यह "Emery's Elements of Medical Genetics and Genomics" पुस्तक (16वाँ संस्करण) पीटर टर्नपेनी, सियान एलार्ड एवं रूथ क्लीवर द्वारा तैयार की गई है। इसमें DNA एवं गुणसूत्र, वंशानुक्रम के प्रतिरूप, उत्परिवर्तन, गुणसूत्रीय विकार, नेक्स्ट-जनरेशन सीक्वेंसिंग, कैंसर जेनेटिक्स, फार्माकोजीनोमिक्स, प्रसवपूर्व जाँच तथा आनुवंशिक परामर्श सम्मिलित हैं। साथ ही एनहांस्ड डिजिटल वर्जन भी उपलब्ध है। सम्पूर्ण पुस्तक अंग्रेजी माध्यम में है।