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...
Gespeichert in:
| Weitere Verfasser: | , , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Oxford ; New York :
Oxford University Press,
[2014]
|
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Zusammenfassung: | "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 |
| Beschreibung: | 1 online resource |
| Bibliographie: | Includes bibliographical references and index. |
| ISBN: | 9780199388691 0199388695 9781306731331 130673133X |
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| 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. | ||
| 650 | 0 | |a Genetic disorders. |0 http://id.loc.gov/authorities/subjects/sh87001834 | |
| 650 | 0 | |a Symptoms |v Handbooks, manuals, etc. | |
| 650 | 0 | |a Children. |0 http://id.loc.gov/authorities/subjects/sh85023418 | |
| 650 | 0 | |a Diagnosis, Differential. |0 http://id.loc.gov/authorities/subjects/sh85037493 | |
| 650 | 0 | |a Genetic screening. |0 http://id.loc.gov/authorities/subjects/sh99000370 | |
| 650 | 1 | 2 | |a Child |
| 650 | 1 | 2 | |a Genetic Diseases, Inborn |x diagnosis |
| 650 | 2 | |a Genetic Diseases, Inborn |0 https://id.nlm.nih.gov/mesh/D030342 | |
| 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. | |
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| 650 | 7 | |a Genetic screening |2 fast | |
| 650 | 7 | |a Diagnosis, Differential |2 fast | |
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| 650 | 7 | |a Genetic disorders |2 fast | |
| 650 | 7 | |a Symptoms |2 fast | |
| 655 | 2 | |a Handbook | |
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| 700 | 1 | |a Hudgins, Louanne, |e editor. |0 http://id.loc.gov/authorities/names/n2013188588 | |
| 700 | 1 | |a Toriello, Helga V., |e editor. |0 http://id.loc.gov/authorities/names/n93804891 | |
| 700 | 1 | |a Enns, Gregory M., |e editor. |0 http://id.loc.gov/authorities/names/n2013188589 | |
| 700 | 1 | |a Hoyme, H. Eugene, |e editor. |0 http://id.loc.gov/authorities/names/no2002069167 | |
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| author2 | Hudgins, Louanne Toriello, Helga V. Enns, Gregory M. Hoyme, H. Eugene |
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| author_facet | Hudgins, Louanne Toriello, Helga V. Enns, Gregory M. Hoyme, H. Eugene |
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| contents | 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. |
| ctrlnum | (OCoLC)879421703 |
| dewey-full | 616 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616 |
| dewey-search | 616 |
| dewey-sort | 3616 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| genre_facet | Handbook handbooks. Handbooks and manuals Handbooks and manuals. Guides et manuels. |
| id | ZDB-4-EBA-ocn879421703 |
| illustrated | Not Illustrated |
| indexdate | 2024-11-27T13:25:58Z |
| institution | BVB |
| isbn | 9780199388691 0199388695 9781306731331 130673133X |
| language | English |
| oclc_num | 879421703 |
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| physical | 1 online resource |
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| publishDateSearch | 2014 |
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| publisher | Oxford University Press, |
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| spelling | Signs and symptoms of genetic conditions : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme. Oxford ; New York : Oxford University Press, [2014] ©2014 1 online resource text txt rdacontent computer c rdamedia online resource cr rdacarrier Print version record. 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. "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 Includes bibliographical references and index. Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Symptoms Handbooks, manuals, etc. Children. http://id.loc.gov/authorities/subjects/sh85023418 Diagnosis, Differential. http://id.loc.gov/authorities/subjects/sh85037493 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Child Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn https://id.nlm.nih.gov/mesh/D030342 Diagnosis, Differential Genetic Testing Signs and Symptoms Maladies génétiques. Signes et symptômes Guides, manuels, etc. Enfants. Diagnostics différentiels. Dépistage génétique. children (people by age group) aat HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Diagnosis, Differential fast Children fast Genetic disorders fast Symptoms fast Handbook handbooks. aat Handbooks and manuals fast Handbooks and manuals. lcgft http://id.loc.gov/authorities/genreForms/gf2014026109 Guides et manuels. rvmgf Hudgins, Louanne, editor. http://id.loc.gov/authorities/names/n2013188588 Toriello, Helga V., editor. http://id.loc.gov/authorities/names/n93804891 Enns, Gregory M., editor. http://id.loc.gov/authorities/names/n2013188589 Hoyme, H. Eugene, editor. http://id.loc.gov/authorities/names/no2002069167 Print version: Hudgins, Louanne. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford : Oxford University Press, USA, 2014 9780199930975 (DLC) 2013048866 (OCoLC)865543983 FWS01 ZDB-4-EBA FWS_PDA_EBA https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=772842 Volltext |
| spellingShingle | Signs and symptoms of genetic conditions : a handbook / 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. Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Symptoms Handbooks, manuals, etc. Children. http://id.loc.gov/authorities/subjects/sh85023418 Diagnosis, Differential. http://id.loc.gov/authorities/subjects/sh85037493 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Child Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn https://id.nlm.nih.gov/mesh/D030342 Diagnosis, Differential Genetic Testing Signs and Symptoms Maladies génétiques. Signes et symptômes Guides, manuels, etc. Enfants. Diagnostics différentiels. Dépistage génétique. children (people by age group) aat HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Diagnosis, Differential fast Children fast Genetic disorders fast Symptoms fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh87001834 http://id.loc.gov/authorities/subjects/sh85023418 http://id.loc.gov/authorities/subjects/sh85037493 http://id.loc.gov/authorities/subjects/sh99000370 https://id.nlm.nih.gov/mesh/D030342 http://id.loc.gov/authorities/genreForms/gf2014026109 |
| title | Signs and symptoms of genetic conditions : a handbook / |
| title_auth | Signs and symptoms of genetic conditions : a handbook / |
| title_exact_search | Signs and symptoms of genetic conditions : a handbook / |
| title_full | Signs and symptoms of genetic conditions : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme. |
| title_fullStr | Signs and symptoms of genetic conditions : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme. |
| title_full_unstemmed | Signs and symptoms of genetic conditions : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme. |
| title_short | Signs and symptoms of genetic conditions : |
| title_sort | signs and symptoms of genetic conditions a handbook |
| title_sub | a handbook / |
| topic | Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Symptoms Handbooks, manuals, etc. Children. http://id.loc.gov/authorities/subjects/sh85023418 Diagnosis, Differential. http://id.loc.gov/authorities/subjects/sh85037493 Genetic screening. http://id.loc.gov/authorities/subjects/sh99000370 Child Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn https://id.nlm.nih.gov/mesh/D030342 Diagnosis, Differential Genetic Testing Signs and Symptoms Maladies génétiques. Signes et symptômes Guides, manuels, etc. Enfants. Diagnostics différentiels. Dépistage génétique. children (people by age group) aat HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Genetic screening fast Diagnosis, Differential fast Children fast Genetic disorders fast Symptoms fast |
| topic_facet | Genetic disorders. Symptoms Handbooks, manuals, etc. Children. Diagnosis, Differential. Genetic screening. Child Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn Diagnosis, Differential Genetic Testing Signs and Symptoms Maladies génétiques. Signes et symptômes Guides, manuels, etc. Enfants. Diagnostics différentiels. Dépistage génétique. children (people by age group) HEALTH & FITNESS Diseases General. MEDICAL Clinical Medicine. MEDICAL Diseases. MEDICAL Evidence-Based Medicine. MEDICAL Internal Medicine. Genetic screening Children Genetic disorders Symptoms Handbook handbooks. Handbooks and manuals Handbooks and manuals. Guides et manuels. |
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