Nathaniel H. Robin, MD is a Professor in the Departments of Genetics and Pediatrics at the University of Alabama at Birmingham.
His clinical practice is as a general medical geneticist, with an expertise in craniofacial disorders and the genetics of deafness, and is the attending geneticist for the UAB Cleft and Craniofacial Clinics. His research has focused on syndrome identification and delineation, craniofacial disorders, and the genetics of deafness.
Dr. Robin has authored over 100 peer reviewed publications, reviews, and book chapters, and he directs the educational activities for the UAB Department of Genetics. Dr. Robin has presented nationally on the topics of craniofacial genetics and deafness.
He is a member of the board of the Velocardiofacial Syndrome Educational Foundation, and served as the genetics section editor for the Cleft Palate-Craniofacial Journal.
Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.
This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.
Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).
The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.
This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course.
Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include:
• Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer
• A much extended treatment of Biochemical Genetics
• A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation
• Two new chapters on Cardiac Developmental Pathology
• An extended Case Studies section
Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
Topics include: definition and description of language theories of language development precursors for language development language skills, which includes prelinguistic, earlier and later linguistic, and metalinguistic collaborative professional relationships language delays, disorders, and differences aspects of the process of evaluation aspects of the process of intervention
Communication Development and Disorders for Partners in Service equips participants in the service provision continuum to describe the components of language; interpret the implications of theories of language for interaction, evaluation, and intervention; describe the accomplishments in typical language development; compare and contrast typical with atypical language development; and describe the continuum of evaluation and intervention with appreciation of their contributions to this process.
Key Features:Contains over 4,000 common and uncommon audiological terms with clear meaningsIncludes the etymology of words, providing a historical context for studentsEntries have the breadth and depth of definition that students and professionals need
This dictionary is an essential resource that all professionals in the field of audiology will want to have at their fingertips.
This text also describes how rapid advances in technology, including the Internet as well as new visual and auditory technologies, have not only created opportunities for Deaf people to influence how technology can be used, but additionally has become a powerful force in influencing the behavior of Deaf individuals within diverse national and international societies. This has created opportunities for incorporating diversity and international perspectives into Deaf culture. Within each chapter are multiple vignettes, examples, pictures, and stories to enhance content interest for readers and facilitate instructor teaching. Theories are introduced and explained in a practical and reader-friendly manner to ensure understanding, and clear examples are provided to illustrate concepts.
In addition, students of American Sign Language and Deaf studies will find an introduction to possible opportunities for professional and informal involvement with ASL/Deaf culture children and adults. Deaf Culture fills a unique niche as an introductory text that is accessible and straightforward for those beginning their studies of the Deaf-World.
* Strong focus on including different communities within Deaf culture
* Thought-provoking questions, illustrative vignettes, and examples
* Theories introduced and explained in a practical and reader-friendly manner
* Written by Deaf and hearing authors with extensive teaching experience and immersion in ASL and Deaf culture
Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.