000			03116cam a2200433Mi 4500
001			912496049
003			US-DLC
005			20161031122311.0
008			150615s2015 enka b 001 0 eng d
020			_a9781907904677 (pbk)
020			_z1907904670 (pbk)
035			_a(OCoLC)912496049
040			_aEQO _beng _cEQO _dOCLCO _dYDXCP
050			_aRB155 _b.R4 2015
096			_aQU 50 _bR282n 2015
100	1		_aRead, Andrew P., _d1939- _eauthor.
245	1	0	_aNew clinical genetics 3 / _cAndrew Read and Dian Donnai.
246	3	0	_aGenetics
250			_aThird edition.
264		1	_aBanbury : _bScion, _c2015.
264		4	_c©2015.
300			_axxiii, 448 pages : _billustrations (chiefly colour) ; _c27 cm.
336			_atext _2rdacontent
337			_aunmediated _2rdamedia
338			_avolume _2rdacarrier
500			_aPrevious edition: 2011.
504			_aIncludes bibliographical references and index.
505	0		_aWhat can we learn from a family history? -- How can a patient's chromosomes be studied? -- How do genes work? -- How can a patient's DNA be studied? -- How can we check a patient's DNA for gene mutations? -- What do mutations do? -- What is epigenetics? -- How do our genes affect our metabolism, drug responses and immune system? -- How do researchers identify genes for mendelian diseases? -- Why are some conditions common and others rare? -- When is screening useful? -- Is cancer genetic? -- Should we be testing for genetic susceptibility to common diseases? -- What clinical services are available for families with genetic disorders? -- Guidance for self-assessment questions.
520			_a"In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool; the checking of a patient's whole exome for the cause of their problem; noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation; a new integrated treatment of epigenetics; mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes; and dysmorphology in more detail. New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists."--Publisher's website.
650		0	_aMedical genetics.
650		2	_aGenetics, Medical _xmethods.
650		2	_aGenetic Testing.
650		2	_aGenetic Diseases, Inborn.
655		0	_aPrint books. _2local _94
700	1		_aDonnai, D. _q(Dian), _d1945- _eauthor.
942			_2lcc _cBOOKS
049			_aAlfaisal Main Library
260			_c2015.
999			_c312371 _d312371