Bernhard Weschke - Dissemin

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Papers authored by Bernhard Weschke

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2013 Charlotte Jaite, Christian Bachmann, Marc Dewey, Bernhard Weschke

ORCID

, Birgit Spors, Arpad von Moers, Adriane Napp, Ulrike Lehmkuhl, Viola Kappel

Magnetresonanztomographie (MRT) bei Kindern und Jugendlichen

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2012 Seo-Kyung Chung, Chung Sk, Anna Bode, Thomas D. Cushion, Cushion Td, Rhys Huw Thomas, Thomas Rh, Charlotte Hunt, Sian-Elin Wood, Wood Se, William O. Pickrell, Pickrell Wo, Cheney J. G. Drew, Drew Cjg, Sumimasa Yamashita and 29 other authors

GLRB is the third major gene of effect in hyperekplexia

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2011 Ellen Knierim, Lilia Leisle, Christiane Wagner, Bernhard Weschke

ORCID

, Barbara Lucke, Georg Bohner, Jens P. Dreier, Markus Schuelke

Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca v 2.1 Responds to Verapamil

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2010 M. Henneke, S. Gegner, A. Hahn, B. Plecko-Startinig, B. Weschke

ORCID

, J. Gartner, K. Brockmann

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

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Michél A. A. P. Willemsen, Marcel M. Verbeek, Erik-Jan Kamsteeg, Johanneke F. de Rijk-Van Andel, J. F. De Rijk Van Andel, Alec Aeby, J. F. de Rijk-Van Andel, Nenad Blau, Alberto Burlina, Maria A. Donati, Ben Geurtz, Padraic J. Grattan-Smith, Martin Haeussler, Georg F. Hoffmann, Hans Jung and 25 other authors

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

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Wg G. Leen, W. G. Leen (Wilhelmina), J. Klepper (Joerg), Joerg Klepper, M. M. Verbeek (Marcel), Marcel Mm Verbeek, M. Leferink (Maike), Maike Leferink, Tom Hofste, Bg G. van Engelen, T. Hofste (Tom), R. A. Wevers (Ron), T. Arthur (Todd), Ra A. Wevers, B. G. M. van Engelen and 89 other authors

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

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2008 Violeta Mihaylova, Juliane S. Müller, Juan J. Vilchez, Mustafa A. Salih, Mohammad M. Kabiraj, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrana Milic Rasic, Dana Siskova, Jaume Colomer, Agnes Herczegfalvi, Katarina Fabriciova and 6 other authors

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

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2007 Gillian Patrick T. Parmar R. Taylor C. Aeby A. Aicardi J. Artuch R. Montalto S. Bacino C. Barroso B. Baxter P. Benko W. Bergmann C. Bertini E. Biancheri R. Blair E. Blau N. Bonthron D. Briggs T. Brueton L. Brunner H. Burke C. Carr I. Carvalho D. Chandler K Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, B. Borroso, Willam S. Benko, Carsten Bergmann, Enrico Bertini and 114 other authors

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

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Nico Ruf, Mara Martelli, Bernhard Weschke

ORCID

, Birgit Uhlenberg

Oligodendroglial transcription factor (OLIG1 and OLIG2) mutations are not associated with Pelizaeus–Merzbacher-like leukodystrophy

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2006 Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate E. Chandler, David Chitayat and 33 other authors

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

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Philippa B. Mills

ORCID

, Eduard A. Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Matthias Baumgartner

ORCID

, Michèl A. A. P. Willemsen, Heymut Omran, Uta Tacke, Birgit Uhlenberg, Bernhard Weschke

ORCID

, Peter T. Clayton

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

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2004 Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Holger Thiele, Gisela Stoltenburg-Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke

ORCID

, Jutta Gärtner

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

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2003 I. K. Temple, F. Beemer, E. Zackai, T. Lerman-Sagie, B. Weschke

ORCID

, C. E. Anderson, C. Zweier, A. Rauch

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

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Denise Horn, Bernhard Weschke

ORCID

, Christiane Zweier, Anita Rauch

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of hirschsprung disease

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2001 Ursula Felderhoff-Mueser, Jürgen Sperner, Paul Konstanzcak, Ruth Navon, Bernhard Weschke

ORCID

31Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

1998 H. Siemes, U. Brandl, Spohr Hl, S. Völger, B. Weschke

ORCID

Long-term follow-up study of vigabatrin in pretreated children with West syndrome.

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1988 O. Bartsch, B. Weschke

ORCID

, B. Weber

Oestrogen treatment of constitutionally tall girls with 0.1 mg/day ethinyl oestradiol

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