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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Mills, Philippa B. ; Footitt, Emma J. ; Mills, Kevin A. ; Tuschl, Karin ; Aylett, Sarah ; Varadkar, Sophia ; Hemingway, Cheryl ; Marlow, Neil ; Rennie, Janet ; Baxter, Peter ; Dulac, Olivier ; Nabbout, Rima ; Craigen, William J. ; Schmitt, Bernhard ; Feillet, François ; Christensen, Ernst ; De Lonlay, Pascale ; Pike, Mike G. ; Hughes, M. Imelda ; Struys, Eduard A. ; Jakobs, Cornelis ; Zuberi, Sameer M. ; Clayton, Peter T.

In: Brain, 2010, vol. 133, no. 7, p. 2148-2159

Consortium of Swiss Academic Libraries

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

Fofou-Caillierez, Ma'atem B. ; Mrabet, Nadir T. ; Chéry, Céline ; Dreumont, Natacha ; Flayac, Justine ; Pupavac, Mihaela ; Paoli, Justine ; Alberto, Jean-Marc ; Coelho, David ; Camadro, Jean-Michel ; Feillet, François ; Watkins, David ; Fowler, Brian ; Rosenblatt, David S. ; Guéant, Jean-Louis

In: Human Molecular Genetics, 2013, vol. 22, no. 22, p. 4591-4601

Consortium of Swiss Academic Libraries

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Mills, Philippa B. ; Camuzeaux, Stephane S.M. ; Footitt, Emma J. ; Mills, Kevin A. ; Gissen, Paul ; Fisher, Laura ; Das, Krishna B. ; Varadkar, Sophia M. ; Zuberi, Sameer ; McWilliam, Robert ; Stödberg, Tommy ; Plecko, Barbara ; Baumgartner, Matthias R. ; Maier, Oliver ; Calvert, Sophie ; Riney, Kate ; Wolf, Nicole I. ; Livingston, John H. ; Bala, Pronab ; Morel, Chantal F. ; Feillet, François ; Raimondi, Francesco ; Del Giudice, Ennio ; Chong, W. Kling ; Pitt, Matthew ; Clayton, Peter T.

In: Brain, 2014, vol. 137, no. 5, p. 1350-1360

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