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LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi... by Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O'Driscoll
Published 2014Connect to this object online.
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MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile by Ralph Fingerhut, Pascal Joset, Niels J. Rupp, Martin Girsberger, Susanna H.M. Sluka, Theresia Herget, Silvia Miranda Azzarello-Burri, Anita Rauch, Matthias Baumgartner
Published 2017Connect to this object online.
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes by Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Published 2019Connect to this object online.
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