Resultados da busca - Simone Mandelstam

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature por Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

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Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype por Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir

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DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation por Laura Morcom, Timothy J Edwards, Eric Rider, Dorothy Jones-Davis, Jonathan WC Lim, Kok-Siong Chen, Ryan J Dean, Jens Bunt, Yunan Ye, Ilan Gobius, Rodrigo Suárez, Simone Mandelstam, Elliott H Sherr, Linda J Richards

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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania por Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic

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