Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Cath King"'
Autor:
Diana Scotcher, Peter Marks, Claire Giffney, Laura Boyes, Anna Middleton, Sue Kenwrick, Oonagh Claber, Liwsi K Protheroe-Davies, Anita Bruce, Georgina Hall, Claire Dolling, Rhona MacLeod, Cath King, Christine Patch, Catherine Houghton
Publikováno v:
European Journal of Human Genetics
In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they
Autor:
Ruth Newbury-Ecob, Michael N. Weedon, Sian Ellard, Thalia Antoniadi, Richard Caswell, Cath King, Robert Hastings, Konrad Paszkiewicz, Weijia Xie, Lynn Greenhalgh, Maggie Williams
Publikováno v:
The American Journal of Human Genetics. 89(2):308-312
Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a
Autor:
Isabelle Brun-Heath, Marion Gérard-Blanluet, Etienne Mornet, Jean-Louis Serre, Cath King, Delphine Fauvert, Stefani Körtge-Jung, Sarju G Mehta, Michèle Mathieu, David Chitayat, Christina Jern, Jan Liebelt, Hannele Laivuori, Carmen G. Armengod, Brigitte Simon-Bouy, Agnès Taillandier, Fabienne Prieur, Jacques Cousin, Andreas Zankl, Martine Le Merrer, Saba Sharif, Barbara Feldman, Gabriele Gillessen-Kaesbach, Martin G. Bialer
Publikováno v:
Prenatal Diagnosis. 28:993-998
Objective We Studied hypophosphatasia (HP) Mutations in 19 cases prenatally detected by Ultrasonography without familial history of HP. We correlated the Mutations with the reported ultrasound signs, and discussed genetic counseling with regard to th