Ciliopathies

A reference for clinicians
de

,

Éditeur :

OUP Oxford

Paru le : 2013-08-15

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...
Voir tout
Ce livre est accessible aux handicaps Voir les informations d'accessibilité
Ebook téléchargement , DRM LCP 🛈 DRM Adobe 🛈
Compatible lecture en ligne (streaming)
66,93
Ajouter à ma liste d'envies
Téléchargement immédiat
Dès validation de votre commande
Image Louise Reader présentation

Louise Reader

Lisez ce titre sur l'application Louise Reader.

À propos


Éditeur

Collection
n.c

Parution
2013-08-15

Pages
320 pages

EAN papier
9780191633362

Auteur(s) du livre


Philip Beales is Professor of Medical and Molecular Genetics at UCL and Wellcome Trust Senior Research Fellow in Clinical Science. He is Director of the Centre for Translational Genomics (GOSgene) and Head of the Cilia Disorders Laboratory at the UCL Institute of Child Health. He is best known for his clinical and genetic research into rare diseases especially, the ciliopathies, culminating in novel gene discoveries for Bardet-Biedl syndrome, Jeune Asphyxiating Thoracic Dystrophy, Cranioectodermal dysplasia, Acrocallosal Syndrome and several other disorders. He, with colleagues, was the first to attribute the Bardet-Biedl syndrome phenotype to dysfunctional primary cilia. Philip is a consultant in clinical genetics at Great Ormond Street Hospital for Children and Guys Hospital; National lead for the Department of Health specialist commissioned Bardet-Biedl syndrome clinical and diagnostic service; chairman of the UCL Rare Diseases Steering Committee and co-editor in Chief of CILIA.

Caractéristiques détaillées - droits

EAN PDF
9780191633362
Prix
66,93 €
Nombre pages copiables
0
Nombre pages imprimables
0
Taille du fichier
3420 Ko

Suggestions personnalisées