Tekijä: Kieran C. Murphy; Peter J. Scambler Kustantaja: Cambridge University Press (2010) Saatavuus: | Arvioimme, että tuote lähetetään meiltä noin 1-3 viikossa
Tekijä: Professor I.S. MacLaren; Michael Payne; Peter J. Murphy; PearlAnn Reichwein; Lisa McDermott; C. J. Taylor; Zezulka-Maillou Kustantaja: University of Alberta Press (2007) Saatavuus: Ei tiedossa
Tekijä: Peter J. Murphy; Stephen C. Marriage; Peter J. Davis Kustantaja: Cambridge University Press (2009) Saatavuus: | Arvioimme, että tuote lähetetään meiltä noin 1-3 viikossa
Tekijä: Benjamin Mako Hill; Jono Bacon; Ivan Krstic; David J. Murphy; Jonathan Jesse; Peter Savage; Corey Burger Kustantaja: (2007) Saatavuus: Loppuunmyyty.
Tekijä: Neal R. Cutler; John J. Sramek; Michael F. Murphy; Henry Riordan; Peter Biek; Angelico Carta Kustantaja: Wiley-Blackwell (2010) Saatavuus: Loppuunmyyty.
Tekijä: Sophie Bertrand; J. Upton; E. Murphy; Laurence Shalloo; M. Murphy; I. J. M. De Boer; Peter Groot Koerkamp; Stephan Terry Kustantaja: Burleigh Dodds Science Publishing Limited (2024) Saatavuus: 24.09.2024
Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.