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Handbook of Physical Measurements
Updated and revised, this is a comprehensive sourcebook of reference data for health professionals involved in evaluating people with abnormal features or syndromes. It includes many graphs, tables, and charts needed by clinicians to define normal patterns of growth and provides standards of comparison for possible congenital abnormalities. Numerous "how-to" illustrations give the step-by-step guidance needed to ensure that standardized measurements are properly taken for accurate recordkeeping. Designed for ease of use, the pocket-sized book has a durable plastic cover, making it ideal for use in the ward or clinic.
Epstein's Inborn Errors of Development
Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
Pediatric Genetics, An Issue of Pediatric Clinics of North America, E-Book
In this issue, guest editors bring their considerable expertise to this important topic.Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Chromosome Segregation and Aneuploidy
Proceedings of the NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy, held at Aghia Pelagia, Greece, October 10-15, 1992
Child Health Equity, An Issue of Pediatric Clinics of North America, E-Book
In this issue of Pediatric Clinics of North America, guest editors Drs. Robert S. Kahn, Monica Mitchell, and Tina L. Cheng bring their considerable expertise to the topic of Achieving Child Health Equity. Health equity requires removing obstacles to health such as poverty, discrimination, and their consequences, including powerlessness and lack of access to good jobs with fair pay, quality education and housing, safe environments, and health care. In this issue, top experts provide up-to-date information to healthcare practitioners with the goal of implementing programs and policies to identify and address health care inequality for children. - Contains 15 practice-oriented topics including ...
Signs and Symptoms of Genetic Conditions
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: - Prominent flow chart diagrams that graphically depict the diagnostic approach - Concise recommendations for laboratory and/or imaging studies - Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Cassidy and Allanson's Management of Genetic Syndromes
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routin...
Pediatrics Mentor
Clerkship advantage can be yours. Each title in the Mentor Series packs all the information for a core clerkship rotation into an easy-to-read, pocket-sized reference. An outline format with hundreds of review questions, illustrations, sidebars, and appendices helps you find the information you need to know to survive the rotation, excel on the shelf exam, and succeed on the USMLE Step 2 exam.
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
