Congenital heart disease
Congenital heart disease: molecular diagnostics
edited by Mary Kearns-Jonker
Publisher: Totowa, N.J. : Humana Press, c2006.
ISBN: 159745088X
DDC: 616.1042
LCC: RC687
Edition: (e-ISBN)
Notes:
Includes bibliographical references and index.
Genetics of cardiac septation defects and their pre-implantation
diagnosis / Deborah A. McDermott, Craig T. Basson, and Cathy J.
Hatcher -- Molecular and genetic aspects of DiGeorge/velocardiofacial
syndrome / Deborah A. Driscoll -- Mutation screening for the genes
causing cardiac arrhythmias / Jeffrey A. Towbin -- Mutation analysis
of the FBN1 gene in patients with marfan syndrome / Paul Coucke,
Petra Van Acker, and Anne De Paepe -- Mutation analysis of PTPN11 in
Noonan syndrome by WAVE analysis / Navaratnam Elanko and Steve
Jeffery -- Williams-Beuren syndrome / Lucy Osborne, Ann M.
Joseph-George, and Stephen W. Scherer -- Congenital heart disease:
molecular diagnostics of supravalvular aortic stenosis / May
Tassabehji and Zsolt Urban -- "Chip"-ping away at heart failure / J.
David Barrans and Choong-Chin Liew --
Molecular diagnostics of catecholaminergic polymorphic ventricular
tachycardia using denaturing high-performance liguid chromatography
and sequencing / Alex V. Postma, Zahurul A. Bhuiyan, and Hennie
Bikker -- Mutation detection in tumor suppressor genes using archival
tissue specimens / Aristotelis Astrinidis and Elizabeth Petri Henske
-- Friedreich ataxia: detection of GAA repeat expansions and frataxin
point mutations / Massimo Pandolfo -- The cardiovascular
manifestations of Alagille syndrome and JAG1 mutations / Elizabeth
Goldmuntz, Elizabeth Moore, and Nancy Spinner -- Array analysis
applied to malformed hearts: molecular dissection of tetralogy of
fallot / Silke Sperling -- DNA mutation analysis in heterotaxy /
Stephanie Ware -- Use of denaturing high performance liquid
chromatography to detect mutations in pediatric cardiomyopathies /
Amy J. Sehnert.
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