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Published in Molecular psychiatry (01.07.2019)
Published in Molecular psychiatry (01.07.2019)
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Published in Nature genetics (01.08.2012)
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Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
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Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.
Published in American journal of human genetics (03.11.2016)
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Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat
Published in American journal of human genetics (01.06.2008)
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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane
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Published in European journal of human genetics : EJHG (01.02.2014)
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor ( ) gene and causes FSH resistance
KUECHLER, Amla, HAUFFA, Berthold P, KÖNINGER, Angela, KLEINAU, Gunnar, ALBRECHT, Beate, HORSTHEMKE, Bernhard, GROMOLL, Jörg
Published in European journal of human genetics : EJHG (01.06.2010)
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
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Published in American journal of medical genetics. Part A (01.01.2016)
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Published in Nature genetics (01.01.2000)
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Detection of heterozygousSALL1 deletions by quantitative real time PCR proves the contribution of aSALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
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IGF2 H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
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Published in European journal of human genetics : EJHG (01.03.2008)
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UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr
Published in The Lancet (British edition) (10.11.2012)
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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S, Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B, Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R, Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter
Published in Neurology (05.11.2013)
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O, Krajewska-Walasek, Malgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair
Published in Journal of medical genetics (01.03.2016)
Published in Journal of medical genetics (01.03.2016)
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmüller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renée, Cho, Megan T., Thiel, Christian T., Lüdecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo, Wilkie, Andrew O.M., Wieczorek, Dagmar, Engel, Felix B., Reis, André
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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