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Author/Creator Dies, Kira

1. Clinical and genetic characterization of AP4B1‐associated SPG47. Issue 2 (28th November 2017)

Authors:
Ebrahimi‐Fakhari, Darius; Cheng, Chi; Dies, Kira; Diplock, Amelia; Pier, Danielle B.; Ryan, Conor S.; Lanpher, Brendan C.; Hirst, Jennifer; Chung, Wendy K.; Sahin, Mustafa; Rosser, Elisabeth; Darras, Basil; Bennett, James T.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
311
Record Type:
Journal Article
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2. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Issue 1 (11th October 2012)

Authors:
Hoogeveen‐Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
167
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Issue 2 (7th January 2013)

Authors:
Hoogeveen‐Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van Eeghen, Agnies M.; Thiele, Elizabeth A.; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark
Journal:
Human mutation
Issue:
Volume 34:Issue 2(2013:Feb.)
Page Start:
409
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗