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Author/Creator Bell, Katrina M

2. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Issue 8 (5th November 2021)

Authors:
Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 8(2022)
Page Start:
748
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Issue 3 (7th September 2021)

Authors:
Van Bergen, Nicole J; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 3(2022)
Page Start:
362
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. TP63‐truncating variants cause isolated premature ovarian insufficiency. Issue 7 (29th March 2019)

Authors:
Tucker, Elena J.; Jaillard, Sylvie; Grover, Sonia R.; van den Bergen, Jocelyn; Robevska, Gorjana; Bell, Katrina M; Sadedin, Simon; Hanna, Chloe; Dulon, Jérôme; Touraine, Philippe; Sinclair, Andrew H.
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
886
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗