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Ciliopathies : a reference for clinicians.
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 c...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
[Oxford] :
Oxford University Press,
2013.
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
| LEADER | 00000cam a2200000Mi 4500 | ||
|---|---|---|---|
| 001 | EBSCO_ocn990593605 | ||
| 003 | OCoLC | ||
| 005 | 20231017213018.0 | ||
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| 035 | |a (OCoLC)990593605 |z (OCoLC)859835550 |z (OCoLC)861212475 | ||
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| 060 | 0 | 0 | |a 2014 A-268 |
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| 072 | 7 | |a MED |x 014000 |2 bisacsh | |
| 072 | 7 | |a MED |x 022000 |2 bisacsh | |
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| 082 | 0 | 4 | |a 616.042 |
| 049 | |a UAMI | ||
| 100 | 1 | |a Kenny, Thomas D. | |
| 245 | 1 | 0 | |a Ciliopathies : |b a reference for clinicians. |
| 264 | 1 | |a [Oxford] : |b Oxford University Press, |c 2013. | |
| 300 | |a 1 online resource (301 pages) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 588 | 0 | |a Print version record. | |
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a 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. | |
| 505 | 8 | |a 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. | |
| 520 | |a 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. | ||
| 546 | |a English. | ||
| 588 | 0 | |a Online resource; title from home page (viewed on October 7, 2013). | |
| 590 | |a eBooks on EBSCOhost |b EBSCO eBook Subscription Academic Collection - Worldwide | ||
| 650 | 0 | |a Cilia and ciliary motion. | |
| 650 | 0 | |a Genetic disorders. | |
| 650 | 0 | |a Otolaryngology. | |
| 650 | 0 | |a Biology. | |
| 650 | 0 | |a Respiratory organs |x Diseases. | |
| 650 | 0 | |a Diseases. | |
| 650 | 0 | |a Life sciences. | |
| 650 | 0 | |a Medical personnel. | |
| 650 | 0 | |a Physical sciences. | |
| 650 | 0 | |a Cells. | |
| 650 | 0 | |a Anatomy. | |
| 650 | 2 | |a Otorhinolaryngologic Diseases | |
| 650 | 2 | |a Cell Surface Extensions | |
| 650 | 2 | |a Disease Attributes | |
| 650 | 2 | |a Biology | |
| 650 | 2 | |a Respiratory Tract Diseases | |
| 650 | 2 | |a Medicine | |
| 650 | 2 | |a Pathologic Processes | |
| 650 | 2 | |a Disease | |
| 650 | 2 | |a Cellular Structures | |
| 650 | 2 | |a Biological Science Disciplines | |
| 650 | 2 | |a Health Occupations | |
| 650 | 2 | |a Pathological Conditions, Signs and Symptoms | |
| 650 | 2 | |a Natural Science Disciplines | |
| 650 | 2 | |a Disciplines and Occupations | |
| 650 | 2 | |a Cells | |
| 650 | 2 | |a Anatomy | |
| 650 | 2 | |a Cilia | |
| 650 | 2 | |a Ciliary Motility Disorders | |
| 650 | 2 | |a Rare Diseases | |
| 650 | 2 | |a Genetics | |
| 650 | 2 | |a Pathology | |
| 650 | 2 | |a Genetic Diseases, Inborn | |
| 650 | 2 | |a Respiration Disorders | |
| 650 | 2 | |a Health Workforce | |
| 650 | 2 | |a Health Personnel | |
| 650 | 2 | |a Animal Structures | |
| 650 | 6 | |a Maladies génétiques. | |
| 650 | 6 | |a Maladies oto-rhino-laryngologiques. | |
| 650 | 6 | |a Prolongements cytoplasmiques. | |
| 650 | 6 | |a Biologie. | |
| 650 | 6 | |a Appareil respiratoire |x Maladies. | |
| 650 | 6 | |a Maladies. | |
| 650 | 6 | |a Sciences de la vie. | |
| 650 | 6 | |a Personnel médical. | |
| 650 | 6 | |a Sciences physiques. | |
| 650 | 6 | |a Cellules. | |
| 650 | 6 | |a Anatomie. | |
| 650 | 6 | |a Cils vibratiles. | |
| 650 | 6 | |a Syndrome des cils immobiles. | |
| 650 | 7 | |a biology. |2 aat | |
| 650 | 7 | |a illness. |2 aat | |
| 650 | 7 | |a disease. |2 aat | |
| 650 | 7 | |a biological sciences. |2 aat | |
| 650 | 7 | |a physical sciences. |2 aat | |
| 650 | 7 | |a anatomy. |2 aat | |
| 650 | 7 | |a HEALTH & FITNESS |x Diseases |x General. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Clinical Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Diseases. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Evidence-Based Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Internal Medicine. |2 bisacsh | |
| 650 | 7 | |a Respiratory organs |x Diseases. |2 fast |0 (OCoLC)fst01095766 | |
| 650 | 7 | |a Physical sciences. |2 fast |0 (OCoLC)fst01062723 | |
| 650 | 7 | |a Otolaryngology. |2 fast |0 (OCoLC)fst01048946 | |
| 650 | 7 | |a Medical personnel. |2 fast |0 (OCoLC)fst01014407 | |
| 650 | 7 | |a Life sciences. |2 fast |0 (OCoLC)fst00998323 | |
| 650 | 7 | |a Diseases. |2 fast |0 (OCoLC)fst00895158 | |
| 650 | 7 | |a Cells. |2 fast |0 (OCoLC)fst00850250 | |
| 650 | 7 | |a Biology. |2 fast |0 (OCoLC)fst00832383 | |
| 650 | 7 | |a Anatomy. |2 fast |0 (OCoLC)fst00808440 | |
| 650 | 7 | |a Cilia and ciliary motion. |2 fast |0 (OCoLC)fst00861419 | |
| 650 | 7 | |a Genetic disorders. |2 fast |0 (OCoLC)fst00940009 | |
| 700 | 1 | |a Beales, Philip L. | |
| 776 | 0 | 8 | |i Print version: |z 9781299966741 |
| 856 | 4 | 0 | |u https://ebsco.uam.elogim.com/login.aspx?direct=true&scope=site&db=nlebk&AN=648118 |z Texto completo |
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