TY  - BOOK
AU  - Kenny,Thomas D.
AU  - Beales,Philip L.
TI  - Ciliopathies: a reference for clinicians
SN  - 0199658765
AV  - QL369 
U1  - 616.042 
PY  - 2013///
CY  - [Oxford]
PB  - Oxford University Press
KW  - Cilia and ciliary motion
KW  - Genetic disorders
KW  - Otolaryngology
KW  - Biology
KW  - Respiratory organs
KW  - Diseases
KW  - Life sciences
KW  - Medical personnel
KW  - Physical sciences
KW  - Cells
KW  - Anatomy
KW  - Otorhinolaryngologic Diseases
KW  - Cell Surface Extensions
KW  - Disease Attributes
KW  - Respiratory Tract Diseases
KW  - Medicine
KW  - Pathologic Processes
KW  - Disease
KW  - Cellular Structures
KW  - Biological Science Disciplines
KW  - Health Occupations
KW  - Pathological Conditions, Signs and Symptoms
KW  - Natural Science Disciplines
KW  - Disciplines and Occupations
KW  - Cilia
KW  - Ciliary Motility Disorders
KW  - Rare Diseases
KW  - Genetics
KW  - Pathology
KW  - Genetic Diseases, Inborn
KW  - Respiration Disorders
KW  - Health Workforce
KW  - Health Personnel
KW  - Animal Structures
KW  - Maladies génétiques
KW  - Maladies oto-rhino-laryngologiques
KW  - Prolongements cytoplasmiques
KW  - Biologie
KW  - Appareil respiratoire
KW  - Maladies
KW  - Sciences de la vie
KW  - Personnel médical
KW  - Sciences physiques
KW  - Cellules
KW  - Anatomie
KW  - Cils vibratiles
KW  - Syndrome des cils immobiles
KW  - biology
KW  - aat
KW  - illness
KW  - disease
KW  - biological sciences
KW  - physical sciences
KW  - anatomy
KW  - HEALTH & FITNESS
KW  - General
KW  - bisacsh
KW  - MEDICAL
KW  - Clinical Medicine
KW  - Evidence-Based Medicine
KW  - Internal Medicine
KW  - fast
KW  - Electronic books
N1  - Includes bibliographical references and index; Cover; Contents; List of abbreviations; Gene list; List of contributors; 1 Towards the diagnosis of a ciliopathy; 2 Alström syndrome; 3 Jeune syndrome and the ciliary chondrodysplasias; 4 Joubert syndrome and Joubert syndrome-related disorders; 5 Bardet-Biedl syndrome; 6 Leber congenital amaurosis and other non-syndromic retinal ciliopathies; 7 Meckel-Gruber syndrome; 8 Nephronophthisis; 9 Oral-facial-digital type I syndrome; 10 Autosomal dominant polycystic kidney disease; 11 Autosomal recessive polycystic kidney disease; 12 Primary ciliary dyskinesia; 13 Usher syndrome; 14 Syndromes not yet proven to be ciliopathiesIndex; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; R; S; T; U; V; W
N2  - The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a descr
UR  - https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=648118
ER  -