Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
- Creator: Haworth, Simon , Shapland, Chin Yang , Guxens, Monica , J, Y , J, C , K, KJ , K, J , K, T , K, JP , k, K , K, A , K, F , Sunyer, Jordi , v, M , L, G , L, C , L, D , l, I , L, M , L, R , L, Y , L, J , Tachmazidou, Ioanna , L, H , L, LR , M, DG , M, M , M, J , M, G , Walter, Klaudia , M, I , M, S , M, P , M, AM , M, AG , M, A , M, Y , M, N , m, HM , Iotchkova, Valentina , M, D , M, F , N, K , O, MC , O, S , O, A , O, K , Jackson, Andrew , O, MJ , P, A , P, K , P, V , P, JR , P, L , P, T , P, F , P, SJ , P, JRB , Cleal, Louise , p, O , P, RC , P, DJ , P, S , Q, MA , Q, L , R, FL , R, K , R, JB , Huffmann, Jennifer , R, CK , R, S , R, GRS , R, N , R, RL , S, DB , S, P , S, S , S, M , S, N , Min, Josine L. , S, RH , S, RK , S, E , S, SI , S, A , S, HA , S, S-Y , S, D , S, KS , S, C , Sass, Laerke , S, BH , S, L , S, O , S, TD , S, J , S, G , Hayward, Caroline , Timmers, Paul R. H. J. , s, J , T, R , T, J , T, MD , V, AM , V, P , V, PM , W, LV , Al , S , W, JTR , W, G , W, J , W, Y , W, K , W, E , W, T , W, HJ , W, KA , W, C , A, CA , W, SG , X, C , Y, J , Z, F , Z, P , Z, H-F , S, GD , F, SE , W, JF , A, R , C, TJ , F, D , B, K , B, H , Pennell, Craig E. , J, VWV , D, G , Ti, N , Z, E , V, V , A, D , S, B , A, MS , A, M , B, S , B, JC , B, I , Prins, Bram P. , B, P , B, J , B, E , B, D , B, M , B, PF , B, R , B, C , Felix, Janine F. , B, G , C, M , C, K , C, R , C, L , Ci, A , C, S , C, P , C, G , Medina-Gomez, Carolina , C, DA , C, C , C, T , C, N , C, D , D, A , Rivadeneira, Fernando , D, P , D, INM , D, T , D, Y , D, I , D, R , E, S , E, R , Wang, Carol , E, P , E, DM , F, IS , F, DR , F, P , F, J , F, AR , F, CS , F, M , G, L , Ahluwalia, Tarunveer S. , G, TR , G, M , G, D , G, CMT , G, H , G, X , H, D , Vrijheid, Martine , H, AE , H, P , H, B , H, J , h, L , H, T , H, SE , H, ME , J, DK
- Resource Type: journal article
- Date: 2019
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
- Creator: Logan, Clare V. , Murray, Jennie E. , Parry, David A. , Robertson, Andrea , Bellelli, Roberto , Tarnauskaitė, Žygimantė , Challis, Rachel , Cleal, Louise , Borel, Valerie , Fluteau, Adeline , Santoyo-Lopez, Javier , Aitman, Timothy J. , Biankin, Andrew V. , Cooke, Susanna L. , Humphrey, Wendy Inglis , Martin, Sacha , Mennie, Lynne , Meynert, Alison , Miedzybrodzka, Zosia , Murphy, Fiona , Goel, Himanshu
- Resource Type: journal article
- Date: 2018