Resultados da pesquisa - Haas, Stefan A.

T-STAG: resource and web-interface for tissue-specific transcripts and genes Por Gupta, Shobhit, Vingron, Martin, Haas, Stefan A.

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SYSTERS, GeneNest, SpliceNest: exploring sequence space from genome to protein Por Krause, Antje, Haas, Stefan A., Coward, Eivind, Vingron, Martin

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Strengths and weaknesses of EST-based prediction of tissue-specific alternative splicing Por Gupta, Shobhit, Zink, Dorothea, Korn, Bernhard, Vingron, Martin, Haas, Stefan A

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CpG-depleted promoters harbor tissue-specific transcription factor binding signals—implications for motif overrepresentation analyses Por Roider, Helge G., Lenhard, Boris, Kanhere, Aditi, Haas, Stefan A., Vingron, Martin

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PASTAA: identifying transcription factors associated with sets of co-regulated genes Por Roider, Helge G., Manke, Thomas, O'Keeffe, Sean, Vingron, Martin, Haas, Stefan A.

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Modeling Read Counts for CNV Detection in Exome Sequencing Data Por Love, Michael I., Myšičková, Alena, Sun, Ruping, Kalscheuer, Vera, Vingron, Martin, Haas, Stefan A.

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Genome-scale design of PCR primers and long oligomers for DNA microarrays Por Haas, Stefan A., Hild, Marc, Wright, Anthony P. H., Hain, Torsten, Talibi, Driss, Vingron, Martin

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Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing Por Hui, Jingyi, Hung, Lee-Hsueh, Heiner, Monika, Schreiner, Silke, Neumüller, Norma, Reither, Gregor, Haas, Stefan A, Bindereif, Albrecht

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Comparing active and repressed expression states of genes controlled by the Polycomb/Trithorax group proteins Por Beisel, Christian, Buness, Andreas, Roustan-Espinosa, Ian M., Koch, Britta, Schmitt, Sabine, Haas, Stefan A., Hild, Marc, Katsuyama, Tomonori, Paro, Renato

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Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments Por Richard, Hugues, Schulz, Marcel H., Sultan, Marc, Nürnberger, Asja, Schrinner, Sabine, Balzereit, Daniela, Dagand, Emilie, Rasche, Axel, Lehrach, Hans, Vingron, Martin, Haas, Stefan A., Yaspo, Marie-Laure

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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability Por Chiou, Tzu-Ting, Long, Philip, Schumann-Gillett, Alexandra, Kanamarlapudi, Venkateswarlu, Haas, Stefan A., Harvey, Kirsten, O’Mara, Megan L., De Blas, Angel L., Kalscheuer, Vera M., Harvey, Robert J.

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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing Por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei

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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing Por Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei

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Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters Por Warnatz, Hans-Jörg, Querfurth, Robert, Guerasimova, Anna, Cheng, Xi, Haas, Stefan A., Hufton, Andrew L., Manke, Thomas, Vanhecke, Dominique, Nietfeld, Wilfried, Vingron, Martin, Janitz, Michal, Lehrach, Hans, Yaspo, Marie-Laure

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Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep Por Hecht, Jochen, Kuhl, Heiner, Haas, Stefan A, Bauer, Sebastian, Poustka, Albert J, Lienau, Jasmin, Schell, Hanna, Stiege, Asita C, Seitz, Volkhard, Reinhardt, Richard, Duda, Georg N, Mundlos, Stefan, Robinson, Peter N

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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes Por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma

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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment Por Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability Por Huang, Lingli, Jolly, Lachlan A., Willis-Owen, Saffron, Gardner, Alison, Kumar, Raman, Douglas, Evelyn, Shoubridge, Cheryl, Wieczorek, Dagmar, Tzschach, Andreas, Cohen, Monika, Hackett, Anna, Field, Michael, Froyen, Guy, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Kalscheuer, Vera M., Corbett, Mark A., Gecz, Jozef

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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Por Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye

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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions Por Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

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