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Author/Creator Balak, Christopher

1. An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Issue 1 (16th April 2022)

Authors:
Deisseroth, Cole A.; Lerma, Vanesa C.; Magyar, Christina L.; Pfliger, Jessica Mae; Nayak, Aarushi; Bliss, Nathan D.; LeMaire, Ashley W.; Narayanan, Vinodh; Balak, Christopher; Zanni, Ginevra; Valente, Enza Maria; Bertini, Enrico; Benke, Paul J.; Wangler, Michael F.; Chao, Hsiao‐Tuan
Journal:
Annals of neurology
Issue:
Volume 92:Issue 1(2022)
Page Start:
138
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020)

Authors:
Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell...
Journal:
Epilepsia
Issue:
Volume 62:issue 1(2021)
Page Start:
e13
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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