LEADER 00000cam a22007454a 4500 
001    ocm69941820  
003    OCoLC 
005    20160527040806.5 
006    m     o  d         
007    cr cnu---unuuu 
008    060606s2004    enka    ob    001 0 eng d 
019    667014678|a814480568|a848094389 
020    1423775651|q(electronic book) 
020    9781423775652|q(electronic book) 
020    1280835419 
020    9781280835414 
035    (OCoLC)69941820|z(OCoLC)667014678|z(OCoLC)814480568
       |z(OCoLC)848094389 
040    N$T|beng|epn|cN$T|dOCLCQ|dYDXCP|dOCLCG|dOCLCQ|dIDEBK
       |dOCLCQ|dOCLCF|dNLGGC|dOCLCO|dOCLCQ 
049    RIDW 
050  4 RB155.5|b.I536 2004eb 
072  7 HEA|x039060|2bisacsh 
072  7 MED|x107000|2bisacsh 
072  7 JCR|2bicssc 
082 04 616/.042|222 
084    44.36|2bcl 
084    XG 2300|2rvk 
090    RB155.5|b.I536 2004eb 
245 00 Inborn errors of development :|bthe molecular basis of 
       clinical disorders of morphogenesis /|cedited by Charles 
       J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 
264  1 Oxford ;|aNew York :|bOxford University Press,|c2004. 
300    1 online resource (xxiv, 1082 pages) :|billustrations 
       (some color). 
336    text|btxt|2rdacontent 
337    computer|bc|2rdamedia 
338    online resource|bcr|2rdacarrier 
340    |gpolychrome|2rdacc 
347    text file|2rdaft 
490 1  Oxford monographs on medical genetics ;|vno. 49 
504    Includes bibliographical references and index. 
520    Disorders that affect tissue differentiation, 
       organogenesis, and morphogenesis constitute a significant 
       proportion of human hereditary diseases. Until very 
       recently, however, their genetic causes and pathogenesis 
       have been unknown. Now, with the elucidation of the 
       molecular pathways that govern developmental processes and
       with advances in gene identification, the genetic bases of
       an increasing number of human disorders of development are
       being discovered and the links between genotype and 
       phenotype established. This extraordinary volume is the 
       first to present in-depth analyses of the human syndromes 
       of abnormal morphogenesis for which the responsible genes 
       have been identified. Following a series of introductory 
       chapters on the general principles of developmental 
       biology, developmental genetics, and the development of 
       individual tissues or organ systems, more than one hundred
       clinical genetic disorders are considered. The clinical 
       chapters are organized into sections by defined 
       developmental pathways or gene families, and each section 
       is preceded by a general overview.; For each disorder the 
       authors cover the disease-causing genes, the role of these
       genes in development as elucidated in model organisms, the
       human mutations that have been identified, and the 
       developmental pathogenesis of the condition. Clinical 
       descriptions, along with discussions of therapy and 
       counselling, are provided. This book will be an invaluable
       resource for physicians, dentists, and other health 
       professionals and for basic scientists interested in 
       developmental processes and genetic perturbations that 
       affect them. It is authoritative, clearly written, 
       consistently organized, and attractively illustrated in 
       colour. 
588 0  Print version record. 
590    eBooks on EBSCOhost|bEBSCO eBook Subscription Academic 
       Collection - North America 
650  0 Genetic disorders.|0https://id.loc.gov/authorities/
       subjects/sh87001834 
650  0 Developmental disabilities|0https://id.loc.gov/authorities
       /subjects/sh85037355|xGenetic aspects.|0https://id.loc.gov
       /authorities/subjects/sh00005917 
650  0 Genetic disorders in children.|0https://id.loc.gov/
       authorities/subjects/sh85023439 
650  0 Developmental genetics.|0https://id.loc.gov/authorities/
       subjects/sh85037356 
650  2 Abnormalities|xgenetics. 
650  2 Genetic Diseases, Inborn|xgenetics.|0https://
       id.nlm.nih.gov/mesh/D030342Q000235 
650  2 Human Development.|0https://id.nlm.nih.gov/mesh/D006803 
650  7 Genetic disorders.|2fast|0https://id.worldcat.org/fast/
       940009 
650  7 Developmental disabilities|xGenetic aspects.|2fast|0https:
       //id.worldcat.org/fast/891792 
650  7 Developmental disabilities.|2fast|0https://id.worldcat.org
       /fast/891785 
650  7 Genetic disorders in children.|2fast|0https://
       id.worldcat.org/fast/940025 
650  7 Developmental genetics.|2fast|0https://id.worldcat.org/
       fast/891808 
655  4 Electronic books. 
700 1  Epstein, Charles J.|0https://id.loc.gov/authorities/names/
       n79064111 
700 1  Erickson, Robert P.,|d1939-|0https://id.loc.gov/
       authorities/names/n89143686 
700 1  Wynshaw-Boris, Anthony Joseph.|0https://id.loc.gov/
       authorities/names/n87834536 
776 08 |iPrint version:|tInborn errors of development.|dOxford ; 
       New York : Oxford University Press, 2004|z019514502X
       |w(DLC)  2003048693|w(OCoLC)52030626 
830  0 Oxford monographs on medical genetics ;|0https://
       id.loc.gov/authorities/names/n42018416|vno. 49. 
856 40 |uhttps://rider.idm.oclc.org/login?url=http://
       search.ebscohost.com/login.aspx?direct=true&scope=site&
       db=nlebk&AN=160779|zOnline eBook. Access restricted to 
       current Rider University students, faculty, and staff. 
856 42 |3Instructions for reading/downloading this eBook|uhttp://
       guides.rider.edu/ebooks/ebsco 
901    MARCIVE 20231220 
948    |d20160615|cEBSCO|tebscoebooksacademic|lridw 
994    92|bRID