Хайлтын үр дүнгүүд - Begemann, Anaïs

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B -н Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes -н Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development -н Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study -н Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures -н Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics -н Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E., Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A., Engels, Hartmut, Fisher, Rachel, Goh, Elaine S., Hajianpour, M. J., Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M., Russo, Martina, Sadleir, Lynette G., Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita

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