... 273b Nondirectiveness, in genetic counseling, 305-307 Nondisjunction, 109,109f maternal age and, 114 Nonionizing ... 197, 198f Pearson syndrome, 93 Pectus carinatum, Marfan syndrome and, 75 Pectus excavatum, Marfan syndrome and, ...
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010; 5:8. Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: an overview.
Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343:1466–1470. Farashi S, Kryza T, Clements J, Batra J. Post-GWAS in prostate cancer: from genetic ...
The best-known of these, Noonan syndrome, is characterized by short stature, characteristic facial features, webbing of the neck, and congenital heart disease—most commonly stenosis of the pulmonary outflow tract. Most cases of Noonan ...
Los autores de esta obra, que mantiene el formato y la presentación de ediciones anteriores e introduce al estudiante en los principios básicos de la biología molecular, han conseguido realizar una síntesis admirable de la historia de ...
1 Antecedentes e historia2 Biología celular básica: estructura y función de los genes y los cromosomas3 Variación genética: su origen y detección4 Herencia autosómica dominante y recesiva5 Modos de herencia ligados al sexo y no ...
The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.
Spanish version also available, ISBN: 84-8174-423-9
Journal of Biomedical Informatics , 35 ( 4 ) , 222-235 . Ingenerf J and Giere W ( 1998 ) Concept - oriented standardization and statistics - oriented classification : Continuing the classification versus nomenclature controversy .
This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
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Nueva edición de la obra que aborda los conceptos centrales y básicos de la Genética y sus aplicaciones clínicas.
Genética médica