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Author/Creator Weisenberg, Judith L.

1. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Issue 2 (1st July 2015)

Authors:
Epilepsy Phenome/Genome Project & Epi4K Consortium; Allen, Andrew S.; Berkovic, Samuel F.; Coe, Bradley P.; Cook, Joseph; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Heinzen, Erin L.; Johnson, Michael R.; Krum...
Journal:
Annals of neurology
Issue:
Volume 78:Issue 2(2015:Aug.)
Page Start:
323
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Gain‐of‐function HCN2 variants in genetic epilepsy. Issue 2 (13th November 2017)

Authors:
Li, Melody; Maljevic, Snezana; Phillips, A. Marie; Petrovski, Slave; Hildebrand, Michael S.; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L.; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingr...
Journal:
Human mutation
Issue:
Volume 39:Issue 2(2018)
Page Start:
202
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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