000			03276cam a2200481 i 4500
001			17972046
003			US-DLC
005			20161026151821.0
008			131209t20142014enka b 000 0 eng
010			_a 2013048866
020			_a9780199930975 (pbk. : alk. paper)
020			_z019993097X (pbk. : alk. paper)
035			_a(DNLM)101621770
040			_aDNLM/DLC _cDLC _erda _dDLC
042			_apcc
049			_aAlfaisal Main Library
050	0	0	_aRB155.5 _b.S574 2014
060	1	0	_aWS 39
082	0	0	_a616/.042 _223
245	0	0	_aSigns and symptoms of genetic disease : _ba handbook / _cedited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme.
264		1	_aOxford ; _aNew York : _bOxford University Press, _c[2014]
264		4	_c©2014
300			_axv, 540 pages : _billustrations ; _c24 cm
336			_atext _2rdacontent
337			_aunmediated _2rdamedia
338			_avolume _2rdacarrier
504			_aIncludes bibliographical references and index.
505	0		_aGenetic 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.
650		0	_aGenetic disorders.
650		0	_aDiagnosis, Differential.
650	1	2	_aChild _vHandbooks.
650	1	2	_aGenetic Diseases, Inborn _xdiagnosis _vHandbooks.
650	2	2	_aDiagnosis, Differential _vHandbooks.
650	2	2	_aGenetic Testing _vHandbooks.
650	2	2	_aSigns and Symptoms _vHandbooks.
655		0	_2local _94 _aPrint books.
700	1		_aHudgins, Louanne, _eeditor of compilation.
700	1		_aToriello, Helga V., _eeditor of compilation.
700	1		_aEnns, Gregory M., _eeditor of compilation.
700	1		_aHoyme, H. Eugene, _eeditor of compilation.
942			_2lcc _cBOOKS
260			_c[2014]
999			_c311244 _d311244