Product Description
Chapters: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome, Progeria, Ataxia Telangiectasia, Johanson-blizzard Syndrome, Ectrodactyly-ectodermal Dysplasia-cleft Syndrome, Klinefelter's Syndrome, Leopard Syndrome, X-Linked Ichthyosis, Dyskeratosis Congenita, Noonan Syndrome, Epidermolysis Bullosa, Epidermolytic Hyperkeratosis, Crouzon Syndrome, Keratolytic Winter Erythema, Proteus Syndrome, Adams-oliver Syndrome, Keratosis Pilaris, Bloom Syndrome, Lamellar Ichthyosis, Harlequin Type Ichthyosis, Costello Syndrome, Xeroderma Pigmentosum, Klippel-feil Syndrome, Ichthyosis Bullosa of Siemens, Apert Syndrome, Refsum's Disease, Silver-russell Syndrome, Treacher Collins Syndrome, Werner Syndrome, Poems Syndrome, Oculodentodigital Dysplasia, Albright's Hereditary Osteodystrophy, Hypohidrotic Ectodermal Dysplasia, Ichthyosis Vulgaris, Xxyy Syndrome, Cockayne Syndrome, Schindler Disease, Kabuki Syndrome, Multiple Sulfatase Deficiency, Cronkhite-Canada Syndrome, Epidermolysis Bullosa Dystrophica, Acrodermatitis Enteropathica, Netherton Syndrome, Rombo Syndrome, Darier's Disease, Cartilage-hair Hypoplasia, Wolf-hirschhorn Syndrome, Hay-wells Syndrome, Popliteal Pterygium Syndrome, Ichthyosis Hystrix, Conradi-hünermann Syndrome, Cardiofaciocutaneous Syndrome, Pachyonychia Congenita, Zunich-kaye Syndrome, Kindler Syndrome, Hailey-hailey Disease, Papillon-lefèvre Syndrome, Congenital Ichthyosiform Erythroderma, Zimmermann-laband Syndrome, Acrocephalosyndactylia, Cutis Verticis Gyrata, Townes-brocks Syndrome, Rothmund-thomson Syndrome, Marinesco-sjögren Syndrome, Disseminated Superficial Actinic Porokeratosis, Sjögren-larsson Syndrome, Van Der Woude Syndrome, Dermatopathia Pigmentosa Reticularis, Meleda Disease, Confluent and Reticulated Papillomatosis of Gougerot and Carteaud, Ibids Syndrome, Pfeiffer Syndrome, Lelis Syndrome, Child Syndrome, Ifap Syndrome, Naegeli-...More: http://booksllc.net/?id=49364 ... Read more

Product Description

Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

Product Description

Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers.

Product Description
Les achats comprennent une adhésion à l'essai gratuite au club de livres de l'éditeur, dans lequel vous pouvez choisir parmi plus d'un million d'ouvrages, sans frais. Le livre consiste d'articles Wikipedia sur : Spina Bifida, Lissencéphalie, Malformations Congénitales Du Système Nerveux Central, Syndrome de Joubert, Agénésie Du Corps Calleux, Syringomyélie, Malformation de Dandy-Walker, Hydranencéphalie, Anomalies de Développement Du Cortex Cérébral, Polymicrogyrie. Non illustré. Mises à jour gratuites en ligne. Extrait : Le spina bifida (du latin signifiant « épine fendue en deux ») est une malformation congénitale liée à un défaut de fermeture du tube neural durant la vie embryonnaire. Le plus souvent il reste ouvert à son extrémité caudale. Il en résulte l'absence de l'apophyse épineuse d'une ou plusieurs vertèbres. La protrusion des méninges par cette déhiscence donne un méningocèle. De gravité variable, ces malformations vont du spina bifida occulta au myéloméningocèle. Si ces méninges sont accompagnées de moelle épinière, la malformation est appelée myéloméningocèle. Elle concerne une naissance sur 2000. 12% des spina bifida n'entraînent qu'un handicap léger. La localisation la plus typique des malformations est le pôle caudal de l'embryon (qui correspond à la région lombaire de l'enfant à naître). Parfois les nerfs lombo-sacrés sont affectés par le spina bifida, ils participent normalement : Il représente la forme mineure et la plus répandue de la malformation. Il n'existe pas d'ouverture ni de déformation cutanée dans la région lombo-sacrée (la peau en regard des anomalies peut rester normale ou porter une zone très poilue, un nævus ou un hémangiome, voire une petite dépression du derme). Pourtant la radio révèle une fermeture incomplète de la partie postérieure de la vertèbre. Dans cette forme, la fente reste très limitée, et la moelle épinière n'en dépasse pas (il n'y a pas de protrusion). Les conséquences de cette fo...http://booksllc.net/?l=fr ... Read more

Product Description

In recent years there have been huge advances in the understanding of the genetic and molecular basis of the fibrocystic diseases. This volume provides a thorough review of fibrocyctic diseases that affect the liver. It contains in-depth discussions of the genetics, molecular biology, pathogenesis, histology, clinical presentations, complications of, treatment, and prognosis of the conditions affecting children and adults, and hence will be the gold-standard reference for these conditions. In addition, the histological features that distinguish these conditions from other potentially fibrosing hepatopathies are illustrated. Conditions with syndromic features involving the kidney or other organ systems are also reviewed. Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.

Fibrocystic Diseases of the Liver will be an invaluable resource for hepatologists, gastroenterologists, nephrologists, and hepatic surgeons who care for children and adults with liver disease, as well as basic scientists in molecular genetics, hepatobiliary pathophysiology, hepatology and nephrology.