Search Results - Sturm, Marc

Transcript-specific loss-of-function variants in VPS16 are enriched in patients with dystonia by Park, Joohyun (Author) , Reilaender, Annemarie (Author) , Petry-Schmelzer, Jan N. (Author) , Stöbe, Petra (Author) , Cordts, Isabell (Author) , Harmuth, Florian (Author) , Rautenberg, Maren (Author) , Woerz, Sarah E. (Author) , Demidov, German (Author) , Sturm, Marc (Author) , Ossowski, Stephan (Author) , Schwaibold, Eva (Author) , Wunderlich, Gilbert (Author) , Paus, Sebastian (Author) , Saft, Carsten (Author) , Haack, Tobias B. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun (Author) , Tucci, Arianna (Author) , Cipriani, Valentina (Author) , Demidov, German (Author) , Rocca, Clarissa (Author) , Senderek, Jan (Author) , Butryn, Michaela (Author) , Velic, Ana (Author) , Lam, Tanya (Author) , Galanaki, Evangelia (Author) , Cali, Elisa (Author) , Vestito, Letizia (Author) , Maroofian, Reza (Author) , Deininger, Natalie (Author) , Rautenberg, Maren (Author) , Admard, Jakob (Author) , Hahn, Gesa-Astrid (Author) , Bartels, Claudius (Author) , Os, Nienke J. H. van (Author) , Horvath, Rita (Author) , Chinnery, Patrick F. (Author) , Tiet, May Yung (Author) , Hewamadduma, Channa (Author) , Hadjivassiliou, Marios (Author) , Tofaris, George K. (Author) , Wood, Nicholas (Author) , Hayer, Stefanie Nicole (Author) , Bender, Friedemann (Author) , Menden, Benita (Author) , Cordts, Isabell (Author) , Klein, Katrin (Author) , Nguyen, Huu Phuc (Author) , Krauss, Joachim K. (Author) , Blahak, Christian (Author) , Strom, Tim M. (Author) , Sturm, Marc (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Lerche, Holger (Author) , Maček, Boris (Author) , Synofzik, Matthis (Author) , Ossowski, Stephan (Author) , Timmann-Braun, Dagmar (Author) , Wolf, Marc (Author) , Smedley, Damian (Author) , Rieß, Olaf (Author) , Schöls, Ludger (Author) , Houlden, Henry (Author) , Haack, Tobias (Author) , Hengel, Holger (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,

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• Resolving-System, lizenzpflichtig

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women by Sepahi, Ilnaz (Author) , Faust, Ulrike (Author) , Sturm, Marc (Author) , Bosse, Kristin (Author) , Kehrer, Martin (Author) , Heinrich, Tilman (Author) , Grundman-Hauser, Kathrin (Author) , Bauer, Peter (Author) , Ossowski, Stephan (Author) , Susak, Hana (Author) , Varon, Raymonda (Author) , Schröck, Evelin (Author) , Niederacher, Dieter (Author) , Auber, Bernd (Author) , Sutter, Christian (Author) , Nguyen, Huu Phuc (Author) ,

• Resolving-System, kostenfrei
• Resolving-System, kostenfrei
• Verlag, kostenfrei, Volltext

Genome-wide UPD screening in patients with intellectual disability by Schroeder, Christopher Maximilian (Author) , Ekici, Arif Bülent (Author) , Moog, Ute (Author) , Grasshoff, Ute (Author) , Mau-Holzmann, Ulrike (Author) , Sturm, Marc (Author) , Vosseler, Vanessa (Author) , Poths, Sven (Author) , Rappold, Gudrun (Author) , Riess, Angelika (Author) , Riess, Olaf (Author) , Dufke, Andreas (Author) , Bonin, Michael (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext