Showing 1 - 6 results of 6 for search 'Wood, KA', query time: 0.03s
Refine Results
-
1
The impact of paternal age on new mutations and disease in the next generation by Wood, KA, Goriely, A
Published 2023Journal article -
2
The impact of paternal age on new mutations and disease in the next generation by Wood, KA, Goriely, A
Published 2022Journal article -
3
The role of the U5 snRNP in genetic disorders and cancer by Wood, KA, Eadsforth, MA, Newman, WG, O’Keefe, RT
Published 2021Journal article -
4
Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy by Wood, KA, Ellingford, JM, Eden, J, Thomas, HB, O'Keefe, RT, Hopton, C, Newman, WG
Published 2021Journal article -
5
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Bernkopf, M, Abdullah, UB, Bush, SJ, Wood, KA, Ghaffari, S, Koelling, N, Maher, GJ, Williams, J, Blair, EM, Kelly, FB, Bloss, A, Kini, U, Németh, AH, Saunders, K, Shears, DJ, Stewart, H, Clouston, P, Davies, RW, Wilkie, AOM, Goriely, A
Published 2023Journal article -
6
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline by Wood, KA, Tong, RS, Motta, M, Cordeddu, V, Scimone, ER, Bush, SJ, Maxwell, D, Gianoulatou, E, Caputo, V, Traversa, A, Mancini, C, Ferrero, GB, Benedicenti, F, Grammatico, P, Melis, D, Steindl, K, Brunetti-Pierri, N, Trevisson, E, Wilkie, AOM, Lin, AE, Cormier-Daire, V, Twigg, SRF, Tartaglia, M, Goriely, A
Published 2024Journal article