Search Results - Haas, Stefan A.
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Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing by Hui, Jingyi, Hung, Lee-Hsueh, Heiner, Monika, Schreiner, Silke, Neumüller, Norma, Reither, Gregor, Haas, Stefan A, Bindereif, Albrecht
Published 2005Text -
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Comparing active and repressed expression states of genes controlled by the Polycomb/Trithorax group proteins by Beisel, Christian, Buness, Andreas, Roustan-Espinosa, Ian M., Koch, Britta, Schmitt, Sabine, Haas, Stefan A., Hild, Marc, Katsuyama, Tomonori, Paro, Renato
Published 2007Text -
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Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments by 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
Published 2010Text -
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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability by 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.
Published 2019Text -
12
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing by 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
Published 2010Text -
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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing by 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
Published 2010Text -
14
Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters by 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
Published 2010Text -
15
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep by 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
Published 2006Text -
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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes by 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
Published 2014Text -
17
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment by 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
Published 2011Text -
18
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability by 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
Published 2012Text -
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth by 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
Published 2013Text -
20
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions by 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
Published 2015Text