Signs and symptoms of genetic conditions : a handbook /

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"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...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Hudgins, Louanne (Editor ), Toriello, Helga V. (Editor ), Enns, Gregory M. (Editor ), Hoyme, H. Eugene (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Oxford ; New York : Oxford University Press, [2014]
Temas:
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.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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.

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