检索结果 - Haas, Stefan A.
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Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments 由 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
出版 2010Text -
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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability 由 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.
出版 2019Text -
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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 由 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
出版 2010Text -
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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing 由 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
出版 2010Text -
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Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters 由 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
出版 2010Text -
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Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep 由 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
出版 2006Text -
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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes 由 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
出版 2014Text -
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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 由 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
出版 2011Text -
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability 由 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
出版 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 由 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
出版 2013Text -
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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions 由 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
出版 2015Text