Výsledky vyhledávání - Sturm, Marc

SeqPurge: highly-sensitive adapter trimming for paired-end NGS data Autor Sturm, Marc, Schroeder, Christopher, Bauer, Peter

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A statistical learning approach to the modeling of chromatographic retention of oligonucleotides incorporating sequence and secondary structure data Autor Sturm, Marc, Quinten, Sascha, Huber, Christian G., Kohlbacher, Oliver

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OptiType: precision HLA typing from next-generation sequencing data Autor Szolek, András, Schubert, Benjamin, Mohr, Christopher, Sturm, Marc, Feldhahn, Magdalena, Kohlbacher, Oliver

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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? Autor Beck-Wödl, Stefanie, Harzer, Klaus, Sturm, Marc, Buchert, Rebecca, Rieß, Olaf, Mennel, Hans-Dieter, Latta, Elisabeth, Pagenstecher, Axel, Keber, Ursula

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HARVEST, a longitudinal patient record summarizer Autor Hirsch, Jamie S, Tanenbaum, Jessica S, Lipsky Gorman, Sharon, Liu, Connie, Schmitz, Eric, Hashorva, Dritan, Ervits, Artem, Vawdrey, David, Sturm, Marc, Elhadad, Noémie

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Novel HIVEP2 Variants in Patients with Intellectual Disability Autor Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin

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Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux... Autor Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.

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OpenMS – An open-source software framework for mass spectrometry Autor Sturm, Marc, Bertsch, Andreas, Gröpl, Clemens, Hildebrandt, Andreas, Hussong, Rene, Lange, Eva, Pfeifer, Nico, Schulz-Trieglaff, Ole, Zerck, Alexandra, Reinert, Knut, Kohlbacher, Oliver

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

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Guidelines for diagnostic next-generation sequencing Autor Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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Guidelines for diagnostic next-generation sequencing Autor Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome Autor Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette, Pauli, Silke

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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity Autor Penkert, Judith, Schmidt, Gunnar, Hofmann, Winfried, Schubert, Stephanie, Schieck, Maximilian, Auber, Bernd, Ripperger, Tim, Hackmann, Karl, Sturm, Marc, Prokisch, Holger, Hille-Betz, Ursula, Mark, Dorothea, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris

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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia Autor Pogoda, Michaela, Hilke, Franz-Joachim, Lohmann, Ebba, Sturm, Marc, Lenz, Florian, Matthes, Jakob, Muyas, Francesc, Ossowski, Stephan, Hoischen, Alexander, Faust, Ulrike, Sepahi, Ilnaz, Casadei, Nicolas, Poths, Sven, Riess, Olaf, Schroeder, Christopher, Grundmann, Kathrin

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Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia Autor Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stöbe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan, Schwaibold, Eva M.C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten, Haack, Tobias B.

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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery Autor Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger

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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery Autor Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger

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mzML—a Community Standard for Mass Spectrometry Data Autor Martens, Lennart, Chambers, Matthew, Sturm, Marc, Kessner, Darren, Levander, Fredrik, Shofstahl, Jim, Tang, Wilfred H., Römpp, Andreas, Neumann, Steffen, Pizarro, Angel D., Montecchi-Palazzi, Luisa, Tasman, Natalie, Coleman, Mike, Reisinger, Florian, Souda, Puneet, Hermjakob, Henning, Binz, Pierre-Alain, Deutsch, Eric W.

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Understanding the Role of Genetic Variability in LRRK2 in Indian Population Autor Kishore, Asha, Sreelatha, Ashwin Ashok Kumar, Sturm, Marc, von-Zweydorf, Felix, Pihlstrøm, Lasse, Raimondi, Francesco, Russell, Rob, Lichtner, Peter, Banerjee, Moinak, Krishnan, Syam, Rajan, Roopa, Puthenveedu, Divya Kalikavil, Chung, Sun Ju, Bauer, Peter, Riess, Olaf, Gloeckner, Christian Johannes, Kruger, Rejko, Gasser, Thomas, Sharma, Manu

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum Autor Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

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