The molecular spectrum and clinical impact of DIS3 mutations in multiple myeloma
Weißbach, Susann, Langer, Christian, Puppe, Bernhard, Nedeva, Theodora, Bach, Elisa, Kull, Miriam, Bargou, Ralf, Einsele, Hermann, Rosenwald, Andreas, Knop, Stefan, Leich, Ellen
Published in British journal of haematology (01.04.2015)
Published in British journal of haematology (01.04.2015)
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Journal Article
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Published in Orphanet journal of rare diseases (01.08.2014)
Published in Orphanet journal of rare diseases (01.08.2014)
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Journal Article
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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Journal Article
The molecular spectrum and clinical impact of DIS 3 mutations in multiple myeloma
Weißbach, Susann, Langer, Christian, Puppe, Bernhard, Nedeva, Theodora, Bach, Elisa, Kull, Miriam, Bargou, Ralf, Einsele, Hermann, Rosenwald, Andreas, Knop, Stefan, Leich, Ellen
Published in British journal of haematology (01.04.2015)
Published in British journal of haematology (01.04.2015)
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Journal Article
Novel recessive myotilin mutation causes severe myofibrillar myopathy
Schessl, Joachim, Bach, Elisa, Rost, Simone, Feldkirchner, Sarah, Kubny, Christiana, Müller, Stefan, Hanisch, Franz-Georg, Kress, Wolfram, Schoser, Benedikt
Published in Neurogenetics (01.08.2014)
Published in Neurogenetics (01.08.2014)
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Journal Article
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort
Broman, M., Kleinschnitz, I., Bach, J.E., Rost, S., Islander, G., Müller, C.R.
Published in Clinical genetics (01.10.2015)
Published in Clinical genetics (01.10.2015)
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