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	1.	Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation. [electronic resource] by Wohlleber, Eva Kirchhoff, Maria Zink, Alexander M Kreiss-Nachtsheim, Martina Küchler, Alma Jepsen, Birgit Kjaergaard, Susanne Engels, Hartmut Producer: 20110614 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions. [electronic resource] by Krutzke, Sophia K Engels, Hartmut Hofmann, Andrea Schumann, Madita M Cremer, Kirsten Zink, Alexander M Hilger, Alina Ludwig, Michael Gembruch, Ulrich Reutter, Heiko Merz, Waltraut M Producer: 20161011 In: Birth defects research. Part A, Clinical and molecular teratology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. [electronic resource] by Schäfgen, Johanna Cremer, Kirsten Becker, Jessica Wieland, Thomas Zink, Alexander M Kim, Sarah Windheuser, Isabelle C Kreiß, Martina Aretz, Stefan Strom, Tim M Wieczorek, Dagmar Engels, Hartmut Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Loss-of-function variants in HIVEP2 are a cause of intellectual disability. [electronic resource] by Srivastava, Siddharth Engels, Hartmut Schanze, Ina Cremer, Kirsten Wieland, Thomas Menzel, Moritz Schubach, Max Biskup, Saskia Kreiß, Martina Endele, Sabine Strom, Tim M Wieczorek, Dagmar Zenker, Martin Gupta, Siddharth Cohen, Julie Zink, Alexander M Naidu, SakkuBai Producer: 20161213 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate. [electronic resource] by Klamt, Johanna Hofmann, Andrea Böhmer, Anne C Hoebel, Ann-Kathrin Gölz, Lina Becker, Jessica Zink, Alexander M Draaken, Markus Hemprich, Alexander Scheer, Martin Schmidt, Gül Martini, Markus Knapp, Michael Mangold, Elisabeth Degenhardt, Franziska Ludwig, Kerstin U Producer: 20171016 In: Birth defects research. Part A, Clinical and molecular teratology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. [electronic resource] by Dennert, Nicola Engels, Hartmut Cremer, Kirsten Becker, Jessica Wohlleber, Eva Albrecht, Beate Ehret, Julia K Lüdecke, Hermann-Josef Suri, Mohnish Carignani, Giulia Renieri, Alessandra Kukuk, Guido M Wieland, Thomas Andrieux, Joris Strom, Tim M Wieczorek, Dagmar Dieux-Coëslier, Anne Zink, Alexander M Producer: 20171024 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A phenotype map for 14q32.3 terminal deletions. [electronic resource] by Engels, Hartmut Schüler, Herdit M Zink, Alexander M Wohlleber, Eva Brockschmidt, Antje Hoischen, Alexander Drechsler, Matthias Lee, Jennifer A Ludwig, Kerstin U Kubisch, Christian Schwanitz, Gesa Weber, Ruthild G Leube, Barbara Hennekam, Raoul C M Rudnik-Schöneborn, Sabine Kreiss-Nachtsheim, Martina Reutter, Heiko Producer: 20120730 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. [electronic resource] by Hoyer, Juliane Ekici, Arif B Endele, Sabine Popp, Bernt Zweier, Christiane Wiesener, Antje Wohlleber, Eva Dufke, Andreas Rossier, Eva Petsch, Corinna Zweier, Markus Göhring, Ina Zink, Alexander M Rappold, Gudrun Schröck, Evelin Wieczorek, Dagmar Riess, Olaf Engels, Hartmut Rauch, Anita Reis, André Producer: 20120713 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. [electronic resource] by Schramm, Charlotte Draaken, Markus Bartels, Enrika Boemers, Thomas M Schmiedeke, Eberhard Grasshoff-Derr, Sabine Märzheuser, Stefanie Hosie, Stuart Holland-Cunz, Stefan Baudisch, Friederike Priebe, Lutz Hoffmann, Per Zink, Alexander M Engels, Hartmut Brockschmidt, Felix F Aretz, Stefan Nöthen, Markus M Ludwig, Michael Reutter, Heiko Producer: 20110520 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. [electronic resource] by Hempel, Maja Cremer, Kirsten Ockeloen, Charlotte W Lichtenbelt, Klaske D Herkert, Johanna C Denecke, Jonas Haack, Tobias B Zink, Alexander M Becker, Jessica Wohlleber, Eva Johannsen, Jessika Alhaddad, Bader Pfundt, Rolph Fuchs, Sigrid Wieczorek, Dagmar Strom, Tim M van Gassen, Koen L I Kleefstra, Tjitske Kubisch, Christian Engels, Hartmut Lessel, Davor Producer: 20151208 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. [electronic resource] by Kuechler, Alma Zink, Alexander M Wieland, Thomas Lüdecke, Hermann-Josef Cremer, Kirsten Salviati, Leonardo Magini, Pamela Najafi, Kimia Zweier, Christiane Czeschik, Johanna Christina Aretz, Stefan Endele, Sabine Tamburrino, Federica Pinato, Claudia Clementi, Maurizio Gundlach, Jasmin Maylahn, Carina Mazzanti, Laura Wohlleber, Eva Schwarzmayr, Thomas Kariminejad, Roxana Schlessinger, Avner Wieczorek, Dagmar Strom, Tim M Novarino, Gaia Engels, Hartmut Producer: 20160203 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? [electronic resource] by Ehret, Julia K Engels, Hartmut Cremer, Kirsten Becker, Jessica Zimmermann, Johannes P Wohlleber, Eva Grasshoff, Ute Rossier, Eva Bonin, Michael Mangold, Elisabeth Bevot, Andrea Schön, Stefanie Heilmann-Heimbach, Stefanie Dennert, Nicola Mathieu-Dramard, Michèle Lacaze, Elodie Plessis, Ghislaine de Broca, Alain Jedraszak, Guillaume Röthlisberger, Benno Miny, Peter Filges, Isabel Dufke, Andreas Andrieux, Joris Lee, Jennifer A Zink, Alexander M Producer: 20150930 In: Molecular cytogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. [electronic resource] by Hilger, Alina Schramm, Charlotte Pennimpede, Tracie Wittler, Lars Dworschak, Gabriel C Bartels, Enrika Engels, Hartmut Zink, Alexander M Degenhardt, Franziska Müller, Annette M Schmiedeke, Eberhard Grasshoff-Derr, Sabine Märzheuser, Stefanie Hosie, Stuart Holland-Cunz, Stefan Wijers, Charlotte H W Marcelis, Carlo L M van Rooij, Iris A L M Hildebrandt, Friedhelm Herrmann, Bernhard G Nöthen, Markus M Ludwig, Michael Reutter, Heiko Draaken, Markus Producer: 20140804 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. [electronic resource] by Horpaopan, Sukanya Spier, Isabel Zink, Alexander M Altmüller, Janine Holzapfel, Stefanie Laner, Andreas Vogt, Stefanie Uhlhaas, Siegfried Heilmann, Stefanie Stienen, Dietlinde Pasternack, Sandra M Keppler, Kathleen Adam, Ronja Kayser, Katrin Moebus, Susanne Draaken, Markus Degenhardt, Franziska Engels, Hartmut Hofmann, Andrea Nöthen, Markus M Steinke, Verena Perez-Bouza, Alberto Herms, Stefan Holinski-Feder, Elke Fröhlich, Holger Thiele, Holger Hoffmann, Per Aretz, Stefan Producer: 20150422 In: International journal of cancer vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. [electronic resource] by Rauch, Anita Wieczorek, Dagmar Graf, Elisabeth Wieland, Thomas Endele, Sabine Schwarzmayr, Thomas Albrecht, Beate Bartholdi, Deborah Beygo, Jasmin Di Donato, Nataliya Dufke, Andreas Cremer, Kirsten Hempel, Maja Horn, Denise Hoyer, Juliane Joset, Pascal Röpke, Albrecht Moog, Ute Riess, Angelika Thiel, Christian T Tzschach, Andreas Wiesener, Antje Wohlleber, Eva Zweier, Christiane Ekici, Arif B Zink, Alexander M Rump, Andreas Meisinger, Christa Grallert, Harald Sticht, Heinrich Schenck, Annette Engels, Hartmut Rappold, Gudrun Schröck, Evelin Wieacker, Peter Riess, Olaf Meitinger, Thomas Reis, André Strom, Tim M Producer: 20121203 In: Lancet (London, England) vol. 380 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. [electronic resource] by Witteveen, Josefine S Willemsen, Marjolein H Dombroski, Thaís C D van Bakel, Nick H M Nillesen, Willy M van Hulten, Josephus A Jansen, Eric J R Verkaik, Dave Veenstra-Knol, Hermine E van Ravenswaaij-Arts, Conny M A Wassink-Ruiter, Jolien S Klein Vincent, Marie David, Albert Le Caignec, Cedric Schieving, Jolanda Gilissen, Christian Foulds, Nicola Rump, Patrick Strom, Tim Cremer, Kirsten Zink, Alexander M Engels, Hartmut de Munnik, Sonja A Visser, Jasper E Brunner, Han G Martens, Gerard J M Pfundt, Rolph Kleefstra, Tjitske Kolk, Sharon M Producer: 20170907 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. [electronic resource] by Haack, Tobias B Jackson, Christopher B Murayama, Kei Kremer, Laura S Schaller, André Kotzaeridou, Urania de Vries, Maaike C Schottmann, Gudrun Santra, Saikat Büchner, Boriana Wieland, Thomas Graf, Elisabeth Freisinger, Peter Eggimann, Sandra Ohtake, Akira Okazaki, Yasushi Kohda, Masakazu Kishita, Yoshihito Tokuzawa, Yoshimi Sauer, Sascha Memari, Yasin Kolb-Kokocinski, Anja Durbin, Richard Hasselmann, Oswald Cremer, Kirsten Albrecht, Beate Wieczorek, Dagmar Engels, Hartmut Hahn, Dagmar Zink, Alexander M Alston, Charlotte L Taylor, Robert W Rodenburg, Richard J Trollmann, Regina Sperl, Wolfgang Strom, Tim M Hoffmann, Georg F Mayr, Johannes A Meitinger, Thomas Bolognini, Ramona Schuelke, Markus Nuoffer, Jean-Marc Kölker, Stefan Prokisch, Holger Klopstock, Thomas Producer: 20150522 In: Annals of clinical and translational neurology vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)