Browse by Journal

Up a level
Export as [feed] RSS
Group by: Item Type | No Grouping
Jump to: Article
Number of items: 7.

Article

Smith, Thomas, Ho, Gladys, Christodoulou, John, Price, Elizabeth Ann, Onadim, Zerrin, Gauthier-Villars, Marion, Dehainault, Catherine, Houdayer, Claude, Parfait, Beatrice, van Minkelen, Rick, Lohman, Dietmar and Eyre-Walker, Adam (2016) Extensive variation in the mutation rate between and within human genes associated with Mendelian disease. Human Mutation, 37 (5). pp. 488-494. ISSN 1059-7794

Donato, Nataliya Di, Rump, Andreas, Mirzaa, Ghayda M, Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B and O'Driscoll, Mark (2015) Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of "PIK3CA-Related Overgrowth Spectrum" (PROS). Human Mutation, 37 (3). pp. 242-245. ISSN 1059-7794

Hodgkinson, Alan, Chen, Ying and Eyre-Walker, Adam (2012) The large-scale distribution of somatic mutations in cancer genomes. Human Mutation, 33 (1). pp. 136-143. ISSN 1059-7794

Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Polo, J, Muñoz, E, Gennery, A R, Salih, M, Noruzina, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, F, Pham, D, Egly, J M, Lehmann, A R, Sarasin, A and Dollfus, H (2010) Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome. Human Mutation, 31 (2). pp. 113-126. ISSN 1059-7794

Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Sanchez del Pozo, J, Muñoz, E, Gennery, A R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J M, Lehmann, A R, Sarasin, A and Dollfus, H (2010) Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Human Mutation, 31 (2). pp. 113-126. ISSN 1059-7794

Botta, Elena, Offman, Judith, Nardo, Tiziana, Ricotti, Roberta, Zambruno, Giovanna, Sansone, Daniela, Balestri, Paolo, Raams, Anja, Kleijer, Wim J., Jaspers, Nicolaas G.J., Sarasin, Alain, Lehmann, Alan R. and Stefanini, Miria (2007) Mutations in the C7orf11 (TTDN1) Gene in Six Nonphotosensitive Trichothiodystrophy Patients: No Obvious Genotype–Phenotype Relationships. Human Mutation, 28 (1). pp. 92-96. ISSN 1059-7794

Oh, Kyu-Seon, Khan, Sikandar G., Jaspers, N.G.J., Raams, Anja, Ueda, Takahiro, Lehmann, Alan, Friedmann, Peter S., Emmert, Steffen, Gratchev, Alexi, Lachlan, Katherine, Lucassan, Anneke, Baker, Carl C. and Kraemer, Kenneth H. (2006) Phenotypic Heterogeneity in the XPB DNA Helicase Gene (ERCC3): Xeroderma Pigmentosum Without and With Cockayne Syndrome. Human Mutation, 27 (11). pp. 1092-1103. ISSN 1059-7794

This list was generated on Mon Mar 27 21:32:19 2017 BST.