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" Signs and symptoms of genetic conditions : "
edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme
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BL
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| Record Number
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624934
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| Doc. No
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dltt
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| Title & Author
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Signs and symptoms of genetic conditions : : a handbook /\ edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme
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| Page. NO
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xv, 540 pages ;; 24 cm
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| ISBN
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9780199930975 (alk. paper)
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: 019993097X (alk. paper)
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| Bibliographies/Indexes
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Includes bibliographical references and index
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| Abstract
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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. Book jacket
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| Subject
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Genetic disorders
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Diagnosis, Differential
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Child
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Genetic Diseases, Inborn-- diagnosis
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Diagnosis, Differential
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Genetic Testing
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Signs and Symptoms
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| Dewey Classification
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616/.042
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| LC Classification
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RB155.5.S54 2014
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| NLM classification
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WS 39
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| Added Entry
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Hudgins, Louanne
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Toriello, Helga V.
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Enns, Gregory M.
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Hoyme, H. Eugene
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