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Author/Creator Markello, Thomas

1. Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Issue 1 (18th November 2018)

Authors:
Davids, Mariska; Markello, Thomas; Wolfe, Lynne A.; Chepa‐Lotrea, Xenia; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V.
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
42
Record Type:
Journal Article
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3. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Issue 2 (18th June 2020)

Authors:
Foley, A. Reghan; Zou, Yaqun; Dunford, James E.; Rooney, Jachinta; Chandra, Goutam; Xiong, Hui; Straub, Volker; Voit, Thomas; Romero, Norma; Donkervoort, Sandra; Hu, Ying; Markello, Thomas; Horn, Adam; Qebibo, Leila; Dastgir, Jahannaz; Meilleur, Katherine G.; Finkel, Richard S.; Fan, Yanbin; Mamc...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
332
Record Type:
Journal Article
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4. GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine. (3rd March 2014)

Authors:
Pierson, Tyler Mark; Yuan, Hongjie; Marsh, Eric D.; Fuentes‐Fajardo, Karin; Adams, David R.; Markello, Thomas; Golas, Gretchen; Simeonov, Dimitre R.; Holloman, Conisha; Tankovic, Anel; Karamchandani, Manish M.; Schreiber, John M.; Mullikin, James C.; Tifft, Cynthia J.; Toro, Camilo; Boerkoel, Cor...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 1:Number 3(2014:Mar.)
Page Start:
190
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗