Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

by Birch Rachael, Clayton-Smith Jill, Ramsden Simon C, Buiting Karin
Published 2010-05-01

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of...

by Fitzgibbon Gregory J, Clayton-Smith Jill, Banka Siddharth, Hamilton Susan J, Needham Margaret M, Dore Jonathan K, Miller Jake T, Pawson Gareth D, Gaunt Lorraine
Published 2008-11-01

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

by Krajewska-Walasek Malgorzata, Devriendt Koenraad, Donnai Dian, Dallapiccola Bruno, Brunner Han, Metcalfe Kay, Bronwyn Kerr, Harrison Caroline, Day Ruth, Gardner Sara, Strong Kate, Griffiths Pam, Philip Nicole, Clayton-Smith Jill
Published 2010-10-01