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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.	Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? [electronic resource] by Bisgaard, Anne-Marie Kirchhoff, Maria Nielsen, Jens Erik Brandt, Carsten Hove, Hanne Jepsen, Birgit Jensen, Tim Ullmann, Reinhard Skovby, Flemming Producer: 20070920 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. [electronic resource] by Bisgaard, Anne-Marie Kirchhoff, Maria Tümer, Zeynep Jepsen, Birgit Brøndum-Nielsen, Karen Cohen, Monika Hamborg-Petersen, Bente Bryndorf, Thue Tommerup, Niels Skovby, Flemming Producer: 20061213 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. [electronic resource] by Larsen, Jan Johannesen, Katrine Marie Ek, Jakob Tang, Shan Marini, Carla Blichfeldt, Susanne Kibaek, Maria von Spiczak, Sarah Weckhuysen, Sarah Frangu, Mimoza Neubauer, Bernd Axel Uldall, Peter Striano, Pasquale Zara, Federico Kleiss, Rebecca Simpson, Michael Muhle, Hiltrud Nikanorova, Marina Jepsen, Birgit Tommerup, Niels Stephani, Ulrich Guerrini, Renzo Duno, Morten Hjalgrim, Helle Pal, Deb Helbig, Ingo Møller, Rikke Steensbjerre Producer: 20160408 In: Epilepsia vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	The phenotype of [electronic resource] by Gardella, Elena Marini, Carla Trivisano, Marina Fitzgerald, Mark P Alber, Michael Howell, Katherine B Darra, Francesca Siliquini, Sabrina Bölsterli, Bigna K Masnada, Silva Pichiecchio, Anna Johannesen, Katrine M Jepsen, Birgit Fontana, Elena Anibaldi, Gaia Russo, Silvia Cogliati, Francesca Montomoli, Martino Specchio, Nicola Rubboli, Guido Veggiotti, Pierangelo Beniczky, Sandor Wolff, Markus Helbig, Ingo Vigevano, Federico Scheffer, Ingrid E Guerrini, Renzo Møller, Rikke S Producer: 20190830 In: Neurology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. [electronic resource] by Møller, Rikke S Larsen, Line H G Johannesen, Katrine M Talvik, Inga Talvik, Tiina Vaher, Ulvi Miranda, Maria J Farooq, Muhammad Nielsen, Jens E K Svendsen, Lene Lavard Kjelgaard, Ditte B Linnet, Karen M Hao, Qin Uldall, Peter Frangu, Mimoza Tommerup, Niels Baig, Shahid M Abdullah, Uzma Born, Alfred P Gellert, Pia Nikanorova, Marina Olofsson, Kern Jepsen, Birgit Marjanovic, Dragan Al-Zehhawi, Lana I K Peñalva, Sofia J Krag-Olsen, Bente Brusgaard, Klaus Hjalgrim, Helle Rubboli, Guido Pal, Deb K Dahl, Hans A Publication details: Molecular syndromology Sep 2016 In: Molecular syndromology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The phenotypic spectrum of SCN8A encephalopathy. [electronic resource] by Larsen, Jan Carvill, Gemma L Gardella, Elena Kluger, Gerhard Schmiedel, Gudrun Barisic, Nina Depienne, Christel Brilstra, Eva Mang, Yuan Nielsen, Jens Erik Klint Kirkpatrick, Martin Goudie, David Goldman, Rebecca Jähn, Johanna A Jepsen, Birgit Gill, Deepak Döcker, Miriam Biskup, Saskia McMahon, Jacinta M Koeleman, Bobby Harris, Mandy Braun, Kees de Kovel, Carolien G F Marini, Carla Specchio, Nicola Djémié, Tania Weckhuysen, Sarah Tommerup, Niels Troncoso, Monica Troncoso, Ledia Bevot, Andrea Wolff, Markus Hjalgrim, Helle Guerrini, Renzo Scheffer, Ingrid E Mefford, Heather C Møller, Rikke S Producer: 20150615 In: Neurology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)