Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
Richards, Frances M., McKee, Shane A., Rajpar, M. Helen, Cole, Trevor R. P., Evans, D. Gareth R., Jankowski, Janusz A., McKeown, Carole, Sanders, D. Scott A., Maher, Eamonn R.
Published in Human molecular genetics (01.04.1999)
Published in Human molecular genetics (01.04.1999)
Get full text
Journal Article
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P
Published in Endocrine Connections (01.02.2019)
Published in Endocrine Connections (01.02.2019)
Get full text
Journal Article
Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R.P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Published in American journal of human genetics (01.08.2005)
Published in American journal of human genetics (01.08.2005)
Get full text
Journal Article
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Trevor Cole, R.P., Rahman, Nazneen
Published in American journal of human genetics (01.01.2003)
Published in American journal of human genetics (01.01.2003)
Get full text
Journal Article
Skin closure in thin-skinned individuals using a continuous suture
Cole, R.P., Mr, Whitaker, R.H., Mr
Published in Journal of plastic, reconstructive & aesthetic surgery (01.05.2017)
Published in Journal of plastic, reconstructive & aesthetic surgery (01.05.2017)
Get full text
Journal Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
BOYDEN, Lynn M, CHOI, Murim, LEBEL, Marcel, GORDON, Richard D, SEMMEKROT, Ben A, POUJOL, Alain, VÄLIMÄKI, Matti J, DE FERRARI, Maria E, SANJAD, Sami A, GUTKIN, Michael, KARET, Fiona E, TUCCI, Joseph R, CHOATE, Keith A, STOCKIGT, Jim R, KEPPLER-NOREUIL, Kim M, PORTER, Craig C, ANAND, Sudhir K, WHITEFORD, Margo L, DAVIS, Ira D, DEWAR, Stephanie B, BETTINELLI, Alberto, FADROWSKI, Jeffrey J, BELSHA, Craig W, NELSON-WILLIAMS, Carol J, HUNLEY, Tracy E, NELSON, Raoul D, TRACHTMAN, Howard, COLE, Trevor R. P, PINSK, Maury, BOCKENHAUER, Detlef, SHENOY, Mohan, VAIDYANATHAN, Priya, FOREMAN, John W, RASOULPOUR, Majid, FARHI, Anita, THAMEEM, Farook, AL-SHAHROURI, Hania Z, RADHAKRISHNAN, Jai, GHARAVI, Ali G, GOILAV, Beatrice, LIFTON, Richard P, TOKA, Hakan R, TIKHONOVA, Irina R, BJORNSON, Robert, MANE, Shrikant M, COLUSSI, Giacomo
Published in Nature (London) (02.02.2012)
Published in Nature (London) (02.02.2012)
Get full text
Journal Article
Phenotype and natural history in Marshall-Smith syndrome
Shaw, Adam C., van Balkom, Inge D.C., Bauer, Mislen, Cole, Trevor R.P., Delrue, Marie-Ange, Van Haeringen, Arie, Holmberg, Eva, Knight, Samantha J.L., Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Zenker, Martin, Cormier-Daire, Valerie, Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
Get full text
Journal Article