A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome
- Creator: Dunkerton, Sophie , Field, Matthew , Cho, Vicki , Bertram, Edward , Whittle, Belinda , Groves, Alexandra , Goel, Himanshu
- Resource Type: journal article
- Date: 2015
Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 (PTPN22)
- Creator: Chew, Gary Y. J. , Sinha, Umang , Kirkpatrick, Philippa , Riminton, D. Sean , Fulcher, David A. , Cook, Matthew C. , Gatenby, Paul A. , DeMalmanche, Theo , Adelstein, Stephen , Garsia, Roger , Hissaria, Pravin , French, Martyn A. , Wilson, Anastasia , Whittle, Belinda
- Resource Type: journal article
- Date: 2013
RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility
- Creator: O'Bryan, Moira K. , Clark, Brett J. , Ormandy, Christopher J. , Jamsai, Duangporn , McLaughlin, Eileen A. , D'Sylva, Rebecca J. , O'Donnell, Liza , Wilce, Jacqueline A. , Sutherland, Jessie , O'Connor, Anne E. , Whittle, Belinda , Goodnow, Christopher C.
- Resource Type: journal article
- Date: 2013
RAB-Like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly
- Creator: Lo, Jennifer C. Y. , Jamsai, Duangporn , Whittle, Belinda , Goodnow, Christopher C. , Ormandy, Christopher J. , O'Bryan, Moira K. , O'Connor, Anne E. , Borg, Claire , Clark, Brett J. , Whisstock, James C. , Field, Mark C. , Adams, Vicki , Ishikawa, Tomomoto , Aitken, R. John
- Resource Type: journal article
- Date: 2012