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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, Irina T. ; Sarkozy, Anna ; Munot, Pinki ; Manzur, Adnan ; O' Grady, Gina ; Rendu, John ; Malfatti, Eduardo ; Amthor, Helge ; Servais, Laurent ; Urtizberea, J. Andoni ; Neto, Osorio Abath ; Zanoteli, Edmar ; Donkervoort, Sandra ; Taylor, Juliet ; Dixon, Joanne ; Poke, Gemma ; Foley, A. Reghan ; Holmes, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano‐Roy, Susana ; Romero, Norma B. ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R. ; Phadke, Rahul ; Sewry, Caroline A. ; Bönnemann, Carsten G. ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, Francesco

Human Mutation, December 2018, Vol.39(12), pp.1980-1994 [Peer Reviewed Journal]

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Frontispiece: Association and Dissociation of Grignard Reagents RMgCl and Their Turbo Variant RMgClLiCl

Schnegelsberg, Christoph ; Bachmann, Sebastian ; Kolter, Marlene ; Auth, Thomas ; John, Michael ; Stalke, Dietmar ; Koszinowski, Konrad

Chemistry, Jun 1, 2016, Vol.22(23) [Peer Reviewed Journal]

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

Bachmann, Christoph ; Noreen, Faiza ; Voermans, Nicol C. ; Schär, Primo L. ; Vissing, John ; Fock, Johanna M. ; Bulk, Saskia ; Kusters, Benno ; Moore, Steven A. ; Beggs, Alan H. ; Mathews, Katherine D. ; Meyer, Megan ; Genetti, Casie A. ; Meola, Giovanni ; Cardani, Rosanna ; Mathews, Emma ; Jungbluth, Heinz ; Muntoni, Francesco ; Zorzato, Francesco ; Treves, Susan

Human Mutation, July 2019, Vol.40(7), pp.962-974 [Peer Reviewed Journal]

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Extraocular muscle function is impaired in ryr3 −/− mice

Eckhardt, Jan ; Bachmann, Christoph ; Sekulic-Jablanovic, Marijana ; Enzmann, Volker ; Park, Ki Ho ; Ma, Jianjie ; Takeshima, Hiroshi ; Zorzato, Francesco ; Treves, Susan

The Journal of General Physiology, 2019, Vol.151(7), p.929-943 [Peer Reviewed Journal]

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ISRCTN12125882 - Influence of topical anti-VEGF (Ranibizumab) on the outcome of filtration surgery for glaucoma - Study Protocol

Kaiser Michael ; Guber Ivo ; Becht Christoph N ; Kaufmann Claude ; Bochmann Frank ; Bachmann Lucas M ; Thiel Michael A

BMC Ophthalmology, 01 January 2011, Vol.11(1), p.1 [Peer Reviewed Journal]

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Identifying Uncertainty Shocks Using the Price of Gold

Piffer, Michele ; Podstawski, Maximilian

Economic Journal, 2018, Vol.128(616), p.3266(21) [Peer Reviewed Journal]

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Association and Dissociation of Grignard Reagents RMgCl and Their Turbo Variant RMgCl⋅LiCl

Schnegelsberg, Christoph ; Bachmann, Sebastian ; Kolter, Marlene ; Auth, Thomas ; John, Michael ; Stalke, Dietmar ; Koszinowski, Konrad

Chemistry – A European Journal, 01 June 2016, Vol.22(23), pp.7752-7762 [Peer Reviewed Journal]

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Dual Identification and the (De‐)Politicization of Migrants: Longitudinal and Comparative Evidence

Simon, Bernd ; Reichert, Frank ; Schaefer, Christoph Daniel ; Bachmann, Anne ; Renger, Daniela

Journal of Community & Applied Social Psychology, May 2015, Vol.25(3), pp.193-203 [Peer Reviewed Journal]

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Inpatient rehabilitation specifically designed for geriatric patients: systematic review and meta-analysis of randomised controlled trials

Bachmann, Stefan ; Finger, Christoph ; Huss, Anke ; Egger, Matthias ; Stuck, Andreas E ; Clough-Gorr, Kerri M

BMJ, 20, 20 April April 2010, Vol.340 [Peer Reviewed Journal]

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Detection of Myocardial Injury by CMR After Transcatheter Aortic Valve Replacement

Kim, Won-Keun ; Rolf, Andreas ; Liebetrau, Christoph ; Van Linden, Arnaud ; Blumenstein, Johannes ; Kempfert, Jörg ; Bachmann, Georg ; Nef, Holger ; Hamm, Christian ; Walther, Thomas ; Möllmann, Helge

Journal of the American College of Cardiology, 29 July 2014, Vol.64(4), pp.349-357 [Peer Reviewed Journal]

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