Breast MRI texture analysis for prediction of BRCA-associated genetic risk von Vasileiou, Georgia, Costa, Maria J., Long, Christopher, Wetzler, Iris R., Hoyer, Juliane, Kraus, Cornelia, Popp, Bernt, Emons, Julius, Wunderle, Marius, Wenkel, Evelyn, Uder, Michael, Beckmann, Matthias W., Jud, Sebastian M., Fasching, Peter A., Cavallaro, Alexander, Reis, André, Hammon, Matthias

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Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability von Scheller, Ute, Pfisterer, Kathrin, Uebe, Steffen, Ekici, Arif B., Reis, André 1960-, Jamra, Rami, Ferrazzi, Fulvia

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The Slavic NBN Founder Mutation A Role for Reproductive Fitness? von Seemanova, Eva, Varon, Raymonda, Vejvalka, Jan, Jarolim, Petr, Seeman, Pavel, Chrzanowska, Krystyna H., Digweed, Martin, Resnick, Igor, Kremensky, Ivo, Saar, Kathrin, Hoffmann, Katrin, Dutrannoy, Véronique, Karbasiyan, Mohsen, Ghani, Mehdi, Barić, Ivo, Tekin, Mustafa, Kovacs, Peter, Krawczak, Michael, Reis, Andre, Sperling, Karl, Nothnagel, Michael

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Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2 von Zuhair Kassem, Tara, Wunderle, Marius, Kuhlmann, Lukas, Ruebner, Matthias, Huebner, Hanna, Hoyer, Juliane, Reis, André, Fasching, Peter A., Beckmann, Matthias W., Hack, Carolin C., Fietkau, Rainer, Distel, Luitpold

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy von Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt

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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability von Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane

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Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients von Uebe, Steffen, Ehrlicher, Maria, Ekici, Arif Bülent, Behrens, Frank, Böhm, Beate, Homuth, Georg, Schurmann, Claudia, Völker, Uwe, Jünger, Michael, Nauck, Matthias, Völzke, Henry 1967-, Traupe, Heiko, Krawczak, Michael, Burkhardt, Harald, Reis, Andre, Hüffmeier, Ulrike

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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum von Smogavec, Mateja, Cleall, Alison, Hoyer, Juliane, Lederer, Damien, Nassogne, Marie-Cécile, Palmer, Elizabeth E., Deprez, Marie, Benoit, Valérie, Maystadt, Isabelle, Noakes, Charlotte, Leal, Alejandro, Shaw, Marie, Gecz, Jozef, Raymond, Lucy, Reis, André, Shears, Deborah, Brockmann, Knut, Zweier, Christiane

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The clinical significance of small copy number variants in neurodevelopmental disorders von Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T., Ekici, Arif B., Reis, Andre, Bijlsma, Emilia K., Andrieux, Joris, Dieux, Anne, Fitzpatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G., Rauch, Anita

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Transcription factor Tcf4 is the preferred heterodimerization partner for Olig2 in oligodendrocytes and required for differentiation von Wedel, Miriam, Fröb, Franziska, Elsesser, Olga, Wittmann, Marie-Theres, Lie, D. Chichung, Reis, André, Wegner, Michael

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Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy von Schrauder, Michael G., Brunel-Geuder, Lisa, Häberle, Lothar, Wunderle, Marius, Hoyer, Juliane, Csorba, Roland, Reis, André, Schulz-Wendtland, Rüdiger, Beckmann, Matthias W., Lux, Michael P.

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Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria von Hoyer, Juliane, Vasileiou, Georgia, Uebe, Steffen, Wunderle, Marius, Kraus, Cornelia, Fasching, Peter A., Thiel, Christian T., Hartmann, Arndt, Beckmann, Matthias W., Lux, Michael P., Reis, André

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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment von Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I., Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M. Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T., Uebe, Steffen, Reis, Andre, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B., Jamra, Rami Abou

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Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma von Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, Andre, Pasutto, Francesca

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss von Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, Andre, Santani, Avni, Sticht, Heinrich, Jamra, Rami Abou

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PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis evidence for a further PsA-specific risk locus von Bowes, John, Loehr, Sabine, Budu-Aggrey, Ashley, Uebe, Steffen, Bruce, Ian N., Feletar, Marie, Marzo-Ortega, Helena, Helliwell, Philip, Ryan, Anthony W., Kane, David, Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, Brown, Matthew A., Behrens, Frank, Burkhardt, Harald, McHugh, Neil, Huffmeier, Ulrike, Ho, Pauline, Reis, Andre, Barton, Anne

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A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype von Zweier, Christiane, Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita, Reis, Andre, Wollnik, Bernd, Zeschnigk, Michael, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Advanced Logic Synthesis

Weitere Verfasser: “… Reis, André Inácio …”
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