Browse by Journal
Number of items: 4.
2022
Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, and others. (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Medicine, 14 (1). Article Number 62. E-ISSN 1756-994X. (doi:10.1186/s13073-022-01064-4) (KAR id:95466) |
2019
Middelkamp, Sjors, Vlaar, Judith M., Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J., and others. (2019) Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. Genome Medicine, 11 (1). ISSN 1756-994X. (doi:10.1186/s13073-019-0692-0) (KAR id:81262) |
2013
Lechner, M, Fenton, TR, West, J, Wilson, G, Feber, A, Henderson, S, Thirlwell, C, Dibra, HK, Jay, A, Butcher, L, and others. (2013) Identification and functional validation of HPV-mediated hypermethylation in head and neck squamous cell carcinoma. Genome Medicine, 5 (2). ISSN 1756-994X. (doi:10.1186/gm419) (KAR id:61512) |
Lechner, M, Frampton, G, Fenton, TR, Feber, A, Palmer, G, Jay, A, Pillay, N, Forster, M, Cronin, MT, Lipson, D, and others. (2013) Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors. Genome Medicine, 5 . ISSN 1756-994X. (doi:10.1186/gm453) (KAR id:61511) |