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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy by Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, EuroEPINOMICS Dravet working group, Candace T Myers, Heather C Mefford, Aarno Palotie, Ingo Helbig, Jochen C Meier, Peter De Jonghe, Sarah Weckhuysen, Guenter Schwarz
Published 2015-11-01Get full text
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Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin by Beth L. Woodward, Sudipta Lahiri, Anoop S. Chauhan, Marcos Rios Garcia, Lucy E. Goodley, Thomas L. Clarke, Mohinder Pal, Angelo Agathanggelou, Satpal S. Jhujh, Anil N. Ganesh, Fay M. Hollins, Valentina Galassi Deforie, Reza Maroofian, Stephanie Efthymiou, Andrea Meinhardt, Christopher G. Mathew, Michael A. Simpson, Heather C. Mefford, Eissa A. Faqeih, Sergio D. Rosenzweig, Stefano Volpi, Gigliola Di Matteo, Caterina Cancrini, Annarita Scardamaglia, Fiona Shackley, E. Graham Davies, Shahnaz Ibrahim, Peter D. Arkwright, Maha S. Zaki, Tatjana Stankovic, A. Malcolm R. Taylor, Antonina J. Mazur, Nataliya Di Donato, Henry Houlden, Eli Rothenberg, Grant S. Stewart
Published 2025-05-01Get full text
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