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Signs and symptoms of genetic conditions : a handbook /
"Connecting an abnormal physical exam to the 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 geneti...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Oxford ; New York :
Oxford University Press,
[2014]
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 245 | 0 | 0 | |a Signs and symptoms of genetic conditions : |b a handbook / |c edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme. |
| 264 | 1 | |a Oxford ; |a New York : |b Oxford University Press, |c [2014] | |
| 264 | 4 | |c ©2014 | |
| 300 | |a 1 online resource | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 588 | 0 | |a Print version record. | |
| 505 | 0 | |a Genetic testing / Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan -- Short stature / Melanie A. Manning -- Obesity / David J. Aughton -- Overgrowth syndromes / Margaret P. Adam -- Asymmetry / Omar A. Abdul-Rahman -- Microcephaly / Cynthia J. Curry -- Macrocephaly / Helga V. Toriello and Margaret P. Adam -- Alterations in cranial shape / Michael J. Lyons -- Brain malformations / Anne Slavotinek -- Intellectual disability / Agatino Battaglia -- Autism spectrum disorders / Marwan Shinawi -- Hypotonia / Elliott H. Sherr and Gregory M. Enns -- Weakness / Amy Kao and Robert D. Steiner -- Ataxia / Ching H. Wang and Gregory M. Enns -- Seizures / Randall A. Heidenreich -- Metabolic acidosis / Tina M. Cowan and Gregory M. Enns -- Hypoglycemia / Divya Vats and Seymour Packman -- Hyperammonemia / Gregory M. Enns and Tina M. Cowan -- Hepatosplenomegaly / Renata C. Gallagher -- Hearing loss / Eloise Prijoles -- Malformations of the external ear / Chad Haldeman-Englert and Helga V. Toriello -- Anomalies of the eye / Graeme C. Black and Rachel Gillespie -- Facial clefting / Marilyn C. Jones -- Congenital heart defects / Tom Cushing and Joseph T.C. Shieh -- Genetics of renal malformations / Joseph T.C. Shieh -- Limb anomalies / David B. Everman and Leslie G. Biesecker -- Congenital contractures: emphasizing multiple congenital contractures-arthrogryposis / Judith G. Hall -- Disorders of sexual development / Christopher Cunniff -- Alterations in skin pigmentation / Anna L. Bruckner -- Skin malformations / Mary Beth Palko Dinulos -- Spontaneous abortion and intrauterine fetal death / Andrea Kwan and H. Eugene Hoyme. | |
| 520 | |a "Connecting an abnormal physical exam to the 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."--Back cover | ||
| 504 | |a Includes bibliographical references and index. | ||
| 590 | |a eBooks on EBSCOhost |b EBSCO eBook Subscription Academic Collection - Worldwide | ||
| 590 | |a ProQuest Ebook Central |b Ebook Central Academic Complete | ||
| 650 | 0 | |a Genetic disorders. | |
| 650 | 0 | |a Symptoms |v Handbooks, manuals, etc. | |
| 650 | 0 | |a Children. | |
| 650 | 0 | |a Diagnosis, Differential. | |
| 650 | 0 | |a Genetic screening. | |
| 650 | 1 | 2 | |a Child |
| 650 | 1 | 2 | |a Genetic Diseases, Inborn |x diagnosis |
| 650 | 2 | |a Genetic Diseases, Inborn | |
| 650 | 2 | 2 | |a Diagnosis, Differential |
| 650 | 2 | 2 | |a Genetic Testing |
| 650 | 2 | 2 | |a Signs and Symptoms |
| 650 | 6 | |a Maladies génétiques. | |
| 650 | 6 | |a Signes et symptômes |v Guides, manuels, etc. | |
| 650 | 6 | |a Enfants. | |
| 650 | 6 | |a Diagnostics différentiels. | |
| 650 | 6 | |a Dépistage génétique. | |
| 650 | 7 | |a children (people by age group) |2 aat | |
| 650 | 7 | |a HEALTH & FITNESS |x Diseases |x General. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Clinical Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Diseases. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Evidence-Based Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Internal Medicine. |2 bisacsh | |
| 650 | 7 | |a Genetic screening |2 fast | |
| 650 | 7 | |a Diagnosis, Differential |2 fast | |
| 650 | 7 | |a Children |2 fast | |
| 650 | 7 | |a Genetic disorders |2 fast | |
| 650 | 7 | |a Symptoms |2 fast | |
| 655 | 2 | |a Handbook | |
| 655 | 7 | |a handbooks. |2 aat | |
| 655 | 7 | |a Handbooks and manuals |2 fast | |
| 655 | 7 | |a Handbooks and manuals. |2 lcgft | |
| 655 | 7 | |a Guides et manuels. |2 rvmgf | |
| 700 | 1 | |a Hudgins, Louanne, |e editor. | |
| 700 | 1 | |a Toriello, Helga V., |e editor. | |
| 700 | 1 | |a Enns, Gregory M., |e editor. | |
| 700 | 1 | |a Hoyme, H. Eugene, |e editor. | |
| 758 | |i has work: |a Signs and symptoms of genetic conditions (Text) |1 https://id.oclc.org/worldcat/entity/E39PCFBqPTfjKJwP89w8QpC3V3 |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 776 | 0 | 8 | |i Print version: |a Hudgins, Louanne. |t Signs and Symptoms of Genetic Conditions: A Handbook. |d Oxford : Oxford University Press, USA, 2014 |z 9780199930975 |w (DLC) 2013048866 |w (OCoLC)865543983 |
| 856 | 4 | 0 | |u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=1685679 |z Texto completo |
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