Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

Por GRIMM, TIEMO, KRESS, WOLFRAM, MENG, GERHARD, MÜLLER, CLEMENS R.
Publicado em 2012

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling

Por Müller, Elisabeth, Keller, Alexander, Fregin, Andreas, Müller, Clemens R, Rost, Simone
Publicado em 2014

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype

Por Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone
Publicado no Eur J Hum Genet (2016)

RYR1 mutation screening 1992 – 2014: a genetic report on 22 years from the Würzburg MH unit

Por Müller, Clemens R, Skirde, Judith, Hartung, Edmund, Anetseder, Martin, Ricci, Yvonne, Islander, Gunilla, Schuster, Frank
Publicado em 2014

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed i...

Por Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R., Treves, Susan
Publicado em 2006

Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function

Por Westhofen, Philipp, Watzka, Matthias, Marinova, Milka, Hass, Moritz, Kirfel, Gregor, Müller, Jens, Bevans, Carville G., Müller, Clemens R., Oldenburg, Johannes
Publicado em 2011

A standardized framework for the validation and verification of clinical molecular genetic tests

Por Mattocks, Christopher J, Morris, Michael A, Matthijs, Gert, Swinnen, Elfriede, Corveleyn, Anniek, Dequeker, Els, Müller, Clemens R, Pratt, Victoria, Wallace, Andrew
Publicado em 2010

Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation

Por Reichart, Beate, Klafke, Ruth, Dreger, Christine, Krüger, Eleonora, Motsch, Isabell, Ewald, Andrea, Schäfer, Jochen, Reichmann, Heinz, Müller, Clemens R, Dabauvalle, Marie-Christine
Publicado em 2004

Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?

Por Jäkel Thomas, Song Ki-Joon, MacNicoll Alan D, León Vanina, Menzel Sandra, Pelz Hans-Joachim, Rost Simone, Oldenburg Johannes, Müller Clemens R
Publicado em 2009-02-01

Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?

Por Rost, Simone, Pelz, Hans-Joachim, Menzel, Sandra, MacNicoll, Alan D, León, Vanina, Song, Ki-Joon, Jäkel, Thomas, Oldenburg, Johannes, Müller, Clemens R
Publicado em 2009

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Por Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R
Publicado no Eur J Hum Genet (2015)

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Por 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
Publicado em 2014

The Genetic Basis of Resistance to Anticoagulants in Rodents

Por Pelz, Hans-Joachim, Rost, Simone, Hünerberg, Mirja, Fregin, Andreas, Heiberg, Ann-Charlotte, Baert, Kristof, MacNicoll, Alan D., Prescott, Colin V., Walker, Anne-Sophie, Oldenburg, Johannes, Müller, Clemens R.
Publicado em 2005

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Por Schorling, David C., Rost, Simone, Lefeber, Dirk J., Brady, Lauren, Müller, Clemens R., Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G., Rodenburg, Richard J., Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan
Publicado no Neurology (2017)

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

Por Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Groß, Eva, Gehrig, Andrea, Müller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie, Franke, André, Lieb, Wolfgang, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo, Wappenschmidt, Barbara, Engel, Christoph, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado no JAMA Oncol (2016)

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

Por Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado no Breast Cancer Res (2018)