Signs and symptoms of genetic disease : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme.
Publisher: Oxford ; New York : Oxford University Press, [2014]Copyright date: ©2014Description: xv, 540 pages : illustrations ; 24 cmContent type:- text
- unmediated
- volume
- 9780199930975 (pbk. : alk. paper)
- 616/.042 23
- RB155.5 .S574 2014
- WS 39
BOOKS
| Current library | Home library | Call number | Status | Barcode | |
|---|---|---|---|---|---|
| Alfaisal University On Shelf | Alfaisal University On Shelf | RB155.5 .S574 2014 (Browse shelf(Opens below)) | Available | AU0000000005452 |
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| RB155.5 .B45 2016 Nonsense mutation correction in human diseases : | RB155.5 .K65 2017 Mercies in disguise : | RB155.5 .N38 2019 Mobilizing mutations : | RB155.5 .S574 2014 Signs and symptoms of genetic disease : | RB155.5 .S77 2015 Genetics and genomics in medicine / | RB155.5 .T52 2023 Genetics and genomics in medicine | RB155.65 .C69 2008 Heredity and hope |
Includes bibliographical references and index.
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.