Results of search for 'au:"Møller, Rikke"' › مکتبة رقمیه للعلوم الطبيه catalog

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	101.	Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. [electronic resource] by Masnada, Silvia Hedrich, Ulrike B S Gardella, Elena Schubert, Julian Kaiwar, Charu Klee, Eric W Lanpher, Brendan C Gavrilova, Ralitza H Synofzik, Matthis Bast, Thomas Gorman, Kathleen King, Mary D Allen, Nicholas M Conroy, Judith Ben Zeev, Bruria Tzadok, Michal Korff, Christian Dubois, Fanny Ramsey, Keri Narayanan, Vinodh Serratosa, Jose M Giraldez, Beatriz G Helbig, Ingo Marsh, Eric O'Brien, Margaret Bergqvist, Christina A Binelli, Adrian Porter, Brenda Zaeyen, Eduardo Horovitz, Dafne D Wolff, Markus Marjanovic, Dragan Caglayan, Hande S Arslan, Mutluay Pena, Sergio D J Sisodiya, Sanjay M Balestrini, Simona Syrbe, Steffen Veggiotti, Pierangelo Lemke, Johannes R Møller, Rikke S Lerche, Holger Rubboli, Guido Producer: 20171030 In: Brain : a journal of neurology vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. [electronic resource] by Helbig, Ingo Mefford, Heather C Sharp, Andrew J Guipponi, Michel Fichera, Marco Franke, Andre Muhle, Hiltrud de Kovel, Carolien Baker, Carl von Spiczak, Sarah Kron, Katherine L Steinich, Ines Kleefuss-Lie, Ailing A Leu, Costin Gaus, Verena Schmitz, Bettina Klein, Karl M Reif, Philipp S Rosenow, Felix Weber, Yvonne Lerche, Holger Zimprich, Fritz Urak, Lydia Fuchs, Karoline Feucht, Martha Genton, Pierre Thomas, Pierre Visscher, Frank de Haan, Gerrit-Jan Møller, Rikke S Hjalgrim, Helle Luciano, Daniela Wittig, Michael Nothnagel, Michael Elger, Christian E Nürnberg, Peter Romano, Corrado Malafosse, Alain Koeleman, Bobby P C Lindhout, Dick Stephani, Ulrich Schreiber, Stefan Eichler, Evan E Sander, Thomas Producer: 20090213 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. [electronic resource] by Johannesen, Katrine Marini, Carla Pfeffer, Siona Møller, Rikke S Dorn, Thomas Niturad, Cristina Elena Gardella, Elena Weber, Yvonne Søndergård, Marianne Hjalgrim, Helle Nikanorova, Mariana Becker, Felicitas Larsen, Line H G Dahl, Hans A Maier, Oliver Mei, Davide Biskup, Saskia Klein, Karl M Reif, Philipp S Rosenow, Felix Elias, Abdallah F Hudson, Cindy Helbig, Katherine L Schubert-Bast, Susanne Scordo, Maria R Craiu, Dana Djémié, Tania Hoffman-Zacharska, Dorota Caglayan, Hande Helbig, Ingo Serratosa, Jose Striano, Pasquale De Jonghe, Peter Weckhuysen, Sarah Suls, Arvid Muru, Kai Talvik, Inga Talvik, Tiina Muhle, Hiltrud Borggraefe, Ingo Rost, Imma Guerrini, Renzo Lerche, Holger Lemke, Johannes R Rubboli, Guido Maljevic, Snezana Producer: 20170605 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	The spectrum of intermediate SCN8A-related epilepsy. [electronic resource] by Johannesen, Katrine M Gardella, Elena Encinas, Alejandra C Lehesjoki, Anna-Elina Linnankivi, Tarja Petersen, Michael B Lund, Ida Charlotte Bay Blichfeldt, Susanne Miranda, Maria J Pal, Deb K Lascelles, Karine Procopis, Peter Orsini, Alessandro Bonuccelli, Alice Giacomini, Thea Helbig, Ingo Fenger, Christina D Sisodiya, Sanjay M Hernandez-Hernandez, Laura Krithika, Sundararaman Rumple, Melissa Masnada, Silvia Valente, Marialuisa Cereda, Cristina Giordano, Lucio Accorsi, Patrizia Bürki, Sarah E Mancardi, Margherita Korff, Christian Guerrini, Renzo von Spiczak, Sarah Hoffman-Zacharska, Dorota Mazurczak, Tomasz Coppola, Antonietta Buono, Salvatore Vecchi, Marilena Hammer, Michael F Varesio, Costanza Veggiotti, Pierangelo Lal, Dennis Brünger, Tobias Zara, Federico Striano, Pasquale Rubboli, Guido Møller, Rikke S Producer: 20200427 In: Epilepsia vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. [electronic resource] by de Kovel, Carolien G F Trucks, Holger Helbig, Ingo Mefford, Heather C Baker, Carl Leu, Costin Kluck, Christian Muhle, Hiltrud von Spiczak, Sarah Ostertag, Philipp Obermeier, Tanja Kleefuss-Lie, Ailing A Hallmann, Kerstin Steffens, Michael Gaus, Verena Klein, Karl M Hamer, Hajo M Rosenow, Felix Brilstra, Eva H Trenité, Dorothée Kasteleijn-Nolst Swinkels, Marielle E M Weber, Yvonne G Unterberger, Iris Zimprich, Fritz Urak, Lydia Feucht, Martha Fuchs, Karoline Møller, Rikke S Hjalgrim, Helle De Jonghe, Peter Suls, Arvid Rückert, Ina-Maria Wichmann, Heinz-Erich Franke, Andre Schreiber, Stefan Nürnberg, Peter Elger, Christian E Lerche, Holger Stephani, Ulrich Koeleman, Bobby P C Lindhout, Dick Eichler, Evan E Sander, Thomas Producer: 20100212 In: Brain : a journal of neurology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. [electronic resource] by Schubert, Julian Siekierska, Aleksandra Langlois, Mélanie May, Patrick Huneau, Clément Becker, Felicitas Muhle, Hiltrud Suls, Arvid Lemke, Johannes R de Kovel, Carolien G F Thiele, Holger Konrad, Kathryn Kawalia, Amit Toliat, Mohammad R Sander, Thomas Rüschendorf, Franz Caliebe, Almuth Nagel, Inga Kohl, Bernard Kecskés, Angela Jacmin, Maxime Hardies, Katia Weckhuysen, Sarah Riesch, Erik Dorn, Thomas Brilstra, Eva H Baulac, Stephanie Møller, Rikke S Hjalgrim, Helle Koeleman, Bobby P C Jurkat-Rott, Karin Lehman-Horn, Frank Roach, Jared C Glusman, Gustavo Hood, Leroy Galas, David J Martin, Benoit de Witte, Peter A M Biskup, Saskia De Jonghe, Peter Helbig, Ingo Balling, Rudi Nürnberg, Peter Crawford, Alexander D Esguerra, Camila V Weber, Yvonne G Lerche, Holger Producer: 20150123 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. [electronic resource] by Muona, Mikko Berkovic, Samuel F Dibbens, Leanne M Oliver, Karen L Maljevic, Snezana Bayly, Marta A Joensuu, Tarja Canafoglia, Laura Franceschetti, Silvana Michelucci, Roberto Markkinen, Salla Heron, Sarah E Hildebrand, Michael S Andermann, Eva Andermann, Frederick Gambardella, Antonio Tinuper, Paolo Licchetta, Laura Scheffer, Ingrid E Criscuolo, Chiara Filla, Alessandro Ferlazzo, Edoardo Ahmad, Jamil Ahmad, Adeel Baykan, Betul Said, Edith Topcu, Meral Riguzzi, Patrizia King, Mary D Ozkara, Cigdem Andrade, Danielle M Engelsen, Bernt A Crespel, Arielle Lindenau, Matthias Lohmann, Ebba Saletti, Veronica Massano, João Privitera, Michael Espay, Alberto J Kauffmann, Birgit Duchowny, Michael Møller, Rikke S Straussberg, Rachel Afawi, Zaid Ben-Zeev, Bruria Samocha, Kaitlin E Daly, Mark J Petrou, Steven Lerche, Holger Palotie, Aarno Lehesjoki, Anna-Elina Producer: 20150311 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Pitfalls in genetic testing: the story of missed SCN1A mutations. [electronic resource] by Djémié, Tania Weckhuysen, Sarah von Spiczak, Sarah Carvill, Gemma L Jaehn, Johanna Anttonen, Anna-Kaisa Brilstra, Eva Caglayan, Hande S de Kovel, Carolien G Depienne, Christel Gaily, Eija Gennaro, Elena Giraldez, Beatriz G Gormley, Padhraig Guerrero-López, Rosa Guerrini, Renzo Hämäläinen, Eija Hartmann, Corinna Hernandez-Hernandez, Laura Hjalgrim, Helle Koeleman, Bobby P C Leguern, Eric Lehesjoki, Anna-Elina Lemke, Johannes R Leu, Costin Marini, Carla McMahon, Jacinta M Mei, Davide Møller, Rikke S Muhle, Hiltrud Myers, Candace T Nava, Caroline Serratosa, Jose M Sisodiya, Sanjay M Stephani, Ulrich Striano, Pasquale van Kempen, Marjan J A Verbeek, Nienke E Usluer, Sunay Zara, Federico Palotie, Aarno Mefford, Heather C Scheffer, Ingrid E De Jonghe, Peter Helbig, Ingo Suls, Arvid Producer: 20160728 In: Molecular genetics & genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. [electronic resource] by Syrbe, Steffen Hedrich, Ulrike B S Riesch, Erik Djémié, Tania Müller, Stephan Møller, Rikke S Maher, Bridget Hernandez-Hernandez, Laura Synofzik, Matthis Caglayan, Hande S Arslan, Mutluay Serratosa, José M Nothnagel, Michael May, Patrick Krause, Roland Löffler, Heidrun Detert, Katja Dorn, Thomas Vogt, Heinrich Krämer, Günter Schöls, Ludger Mullis, Primus E Linnankivi, Tarja Lehesjoki, Anna-Elina Sterbova, Katalin Craiu, Dana C Hoffman-Zacharska, Dorota Korff, Christian M Weber, Yvonne G Steinlin, Maja Gallati, Sabina Bertsche, Astrid Bernhard, Matthias K Merkenschlager, Andreas Kiess, Wieland Gonzalez, Michael Züchner, Stephan Palotie, Aarno Suls, Arvid De Jonghe, Peter Helbig, Ingo Biskup, Saskia Wolff, Markus Maljevic, Snezana Schüle, Rebecca Sisodiya, Sanjay M Weckhuysen, Sarah Lerche, Holger Lemke, Johannes R Producer: 20150612 In: Nature genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Neurologic phenotypes associated with [electronic resource] by Zagaglia, Sara Selch, Christina Nisevic, Jelena Radic Mei, Davide Michalak, Zuzanna Hernandez-Hernandez, Laura Krithika, S Vezyroglou, Katharina Varadkar, Sophia M Pepler, Alexander Biskup, Saskia Leão, Miguel Gärtner, Jutta Merkenschlager, Andreas Jaksch, Michaela Møller, Rikke S Gardella, Elena Kristiansen, Britta Schlott Hansen, Lars Kjærsgaard Vari, Maria Stella Helbig, Katherine L Desai, Sonal Smith-Hicks, Constance L Hino-Fukuyo, Naomi Talvik, Tiina Laugesaar, Rael Ilves, Pilvi Õunap, Katrin Körber, Ingrid Hartlieb, Till Kudernatsch, Manfred Winkler, Peter Schimmel, Mareike Hasse, Anette Knuf, Markus Heinemeyer, Jan Makowski, Christine Ghedia, Sondhya Subramanian, Gopinath M Striano, Pasquale Thomas, Rhys H Micallef, Caroline Thom, Maria Werring, David J Kluger, Gerhard Josef Cross, J Helen Guerrini, Renzo Balestrini, Simona Sisodiya, Sanjay M Producer: 20190829 In: Neurology vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. [electronic resource] by Stamberger, Hannah Nikanorova, Marina Willemsen, Marjolein H Accorsi, Patrizia Angriman, Marco Baier, Hartmut Benkel-Herrenbrueck, Ira Benoit, Valérie Budetta, Mauro Caliebe, Almuth Cantalupo, Gaetano Capovilla, Giuseppe Casara, Gianluca Courage, Carolina Deprez, Marie Destrée, Anne Dilena, Robertino Erasmus, Corrie E Fannemel, Madeleine Fjær, Roar Giordano, Lucio Helbig, Katherine L Heyne, Henrike O Klepper, Joerg Kluger, Gerhard J Lederer, Damien Lodi, Monica Maier, Oliver Merkenschlager, Andreas Michelberger, Nina Minetti, Carlo Muhle, Hiltrud Phalin, Judith Ramsey, Keri Romeo, Antonino Schallner, Jens Schanze, Ina Shinawi, Marwan Sleegers, Kristel Sterbova, Katalin Syrbe, Steffen Traverso, Monica Tzschach, Andreas Uldall, Peter Van Coster, Rudy Verhelst, Helene Viri, Maurizio Winter, Susan Wolff, Markus Zenker, Martin Zoccante, Leonardo De Jonghe, Peter Helbig, Ingo Striano, Pasquale Lemke, Johannes R Møller, Rikke S Weckhuysen, Sarah Producer: 20160728 In: Neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. [electronic resource] by Garavelli, Livia Ivanovski, Ivan Caraffi, Stefano Giuseppe Santodirocco, Daniela Pollazzon, Marzia Cordelli, Duccio Maria Abdalla, Ebtesam Accorsi, Patrizia Adam, Margaret P Baldo, Chiara Bayat, Allan Belligni, Elga Bonvicini, Federico Breckpot, Jeroen Callewaert, Bert Cocchi, Guido Cuturilo, Goran Devriendt, Koenraad Dinulos, Mary Beth Djuric, Olivera Epifanio, Roberta Faravelli, Francesca Formisano, Debora Giordano, Lucio Grasso, Marina Grønborg, Sabine Iodice, Alessandro Iughetti, Lorenzo Lacombe, Didier Maggi, Massimo Malbora, Baris Mammi, Isabella Moutton, Sebastien Møller, Rikke Muschke, Petra Napoli, Manuela Pantaleoni, Chiara Pascarella, Rosario Pellicciari, Alessandro Poch-Olive, Maria Luisa Raviglione, Federico Rivieri, Francesca Russo, Carmela Savasta, Salvatore Scarano, Gioacchino Selicorni, Angelo Silengo, Margherita Sorge, Giovanni Tarani, Luigi Tone, Luis Gonzaga Toutain, Annick Trimouille, Aurelien Valera, Elvis Terci Vergano, Samantha Schrier Zanotta, Nicoletta Zollino, Marcella Dobyns, William B Paciorkowski, Alex R Producer: 20180213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Clinical spectrum of [electronic resource] by Wolking, Stefan May, Patrick Mei, Davide Møller, Rikke S Balestrini, Simona Helbig, Katherine L Altuzarra, Cecilia Desmettre Chatron, Nicolas Kaiwar, Charu Stöhr, Katharina Widdess-Walsh, Peter Mendelsohn, Bryce A Numis, Adam Cilio, Maria R Van Paesschen, Wim Svendsen, Lene L Oates, Stephanie Hughes, Elaine Goyal, Sushma Brown, Kathleen Sifuentes Saenz, Margarita Dorn, Thomas Muhle, Hiltrud Pagnamenta, Alistair T Vavoulis, Dimitris V Knight, Samantha J L Taylor, Jenny C Canevini, Maria Paola Darra, Francesca Gavrilova, Ralitza H Powis, Zöe Tang, Shan Marquetand, Justus Armstrong, Martin McHale, Duncan Klee, Eric W Kluger, Gerhard J Lowenstein, Daniel H Weckhuysen, Sarah Pal, Deb K Helbig, Ingo Guerrini, Renzo Thomas, Rhys H Rees, Mark I Lesca, Gaetan Sisodiya, Sanjay M Weber, Yvonne G Lal, Dennis Marini, Carla Lerche, Holger Schubert, Julian Producer: 20191211 In: Neurology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	CHD2 variants are a risk factor for photosensitivity in epilepsy. [electronic resource] by Galizia, Elizabeth C Myers, Candace T Leu, Costin de Kovel, Carolien G F Afrikanova, Tatiana Cordero-Maldonado, Maria Lorena Martins, Teresa G Jacmin, Maxime Drury, Suzanne Krishna Chinthapalli, V Muhle, Hiltrud Pendziwiat, Manuela Sander, Thomas Ruppert, Ann-Kathrin Møller, Rikke S Thiele, Holger Krause, Roland Schubert, Julian Lehesjoki, Anna-Elina Nürnberg, Peter Lerche, Holger Palotie, Aarno Coppola, Antonietta Striano, Salvatore Gaudio, Luigi Del Boustred, Christopher Schneider, Amy L Lench, Nicholas Jocic-Jakubi, Bosanka Covanis, Athanasios Capovilla, Giuseppe Veggiotti, Pierangelo Piccioli, Marta Parisi, Pasquale Cantonetti, Laura Sadleir, Lynette G Mullen, Saul A Berkovic, Samuel F Stephani, Ulrich Helbig, Ingo Crawford, Alexander D Esguerra, Camila V Kasteleijn-Nolst Trenité, Dorothee G A Koeleman, Bobby P C Mefford, Heather C Scheffer, Ingrid E Sisodiya, Sanjay M Producer: 20150717 In: Brain : a journal of neurology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Defining the phenotypic spectrum of SLC6A1 mutations. [electronic resource] by Johannesen, Katrine M Gardella, Elena Linnankivi, Tarja Courage, Carolina de Saint Martin, Anne Lehesjoki, Anna-Elina Mignot, Cyril Afenjar, Alexandra Lesca, Gaetan Abi-Warde, Marie-Thérèse Chelly, Jamel Piton, Amélie Merritt, J Lawrence Rodan, Lance H Tan, Wen-Hann Bird, Lynne M Nespeca, Mark Gleeson, Joseph G Yoo, Yongjin Choi, Murim Chae, Jong-Hee Czapansky-Beilman, Desiree Reichert, Sara Chadwick Pendziwiat, Manuela Verhoeven, Judith S Schelhaas, Helenius J Devinsky, Orrin Christensen, Jakob Specchio, Nicola Trivisano, Marina Weber, Yvonne G Nava, Caroline Keren, Boris Doummar, Diane Schaefer, Elise Hopkins, Sarah Dubbs, Holly Shaw, Jessica E Pisani, Laura Myers, Candace T Tang, Sha Tang, Shan Pal, Deb K Millichap, John J Carvill, Gemma L Helbig, Kathrine L Mecarelli, Oriano Striano, Pasquale Helbig, Ingo Rubboli, Guido Mefford, Heather C Møller, Rikke S Producer: 20181026 In: Epilepsia vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. [electronic resource] by Depienne, Christel Nava, Caroline Keren, Boris Heide, Solveig Rastetter, Agnès Passemard, Sandrine Chantot-Bastaraud, Sandra Moutard, Marie-Laure Agrawal, Pankaj B VanNoy, Grace Stoler, Joan M Amor, David J Billette de Villemeur, Thierry Doummar, Diane Alby, Caroline Cormier-Daire, Valérie Garel, Catherine Marzin, Pauline Scheidecker, Sophie de Saint-Martin, Anne Hirsch, Edouard Korff, Christian Bottani, Armand Faivre, Laurence Verloes, Alain Orzechowski, Christine Burglen, Lydie Leheup, Bruno Roume, Joelle Andrieux, Joris Sheth, Frenny Datar, Chaitanya Parker, Michael J Pasquier, Laurent Odent, Sylvie Naudion, Sophie Delrue, Marie-Ange Le Caignec, Cédric Vincent, Marie Isidor, Bertrand Renaldo, Florence Stewart, Fiona Toutain, Annick Koehler, Udo Häckl, Birgit von Stülpnagel, Celina Kluger, Gerhard Møller, Rikke S Pal, Deb Jonson, Tord Soller, Maria Verbeek, Nienke E van Haelst, Mieke M de Kovel, Carolien Koeleman, Bobby Monroe, Glen van Haaften, Gijs Attié-Bitach, Tania Boutaud, Lucile Héron, Delphine Mignot, Cyril Producer: 20170620 In: Human genetics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. [electronic resource] by Lemke, Johannes R Geider, Kirsten Helbig, Katherine L Heyne, Henrike O Schütz, Hannah Hentschel, Julia Courage, Carolina Depienne, Christel Nava, Caroline Heron, Delphine Møller, Rikke S Hjalgrim, Helle Lal, Dennis Neubauer, Bernd A Nürnberg, Peter Thiele, Holger Kurlemann, Gerhard Arnold, Georgianne L Bhambhani, Vikas Bartholdi, Deborah Pedurupillay, Christeen Ramane J Misceo, Doriana Frengen, Eirik Strømme, Petter Dlugos, Dennis J Doherty, Emily S Bijlsma, Emilia K Ruivenkamp, Claudia A Hoffer, Mariette J V Goldstein, Amy Rajan, Deepa S Narayanan, Vinodh Ramsey, Keri Belnap, Newell Schrauwen, Isabelle Richholt, Ryan Koeleman, Bobby P C Sá, Joaquim Mendonça, Carla de Kovel, Carolien G F Weckhuysen, Sarah Hardies, Katia De Jonghe, Peter De Meirleir, Linda Milh, Mathieu Badens, Catherine Lebrun, Marine Busa, Tiffany Francannet, Christine Piton, Amélie Riesch, Erik Biskup, Saskia Vogt, Heinrich Dorn, Thomas Helbig, Ingo Michaud, Jacques L Laube, Bodo Syrbe, Steffen Producer: 20170508 In: Neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. [electronic resource] by Leu, Costin de Kovel, Carolien G F Zara, Federico Striano, Pasquale Pezzella, Marianna Robbiano, Angela Bianchi, Amedeo Bisulli, Francesca Coppola, Antonietta Giallonardo, Anna Teresa Beccaria, Francesca Trenité, Dorothée Kasteleijn-Nolst Lindhout, Dick Gaus, Verena Schmitz, Bettina Janz, Dieter Weber, Yvonne G Becker, Felicitas Lerche, Holger Kleefuss-Lie, Ailing A Hallman, Kerstin Kunz, Wolfram S Elger, Christian E Muhle, Hiltrud Stephani, Ulrich Møller, Rikke S Hjalgrim, Helle Mullen, Saul Scheffer, Ingrid E Berkovic, Samuel F Everett, Kate V Gardiner, Mark R Marini, Carla Guerrini, Renzo Lehesjoki, Anna-Elina Siren, Auli Nabbout, Rima Baulac, Stephanie Leguern, Eric Serratosa, Jose M Rosenow, Felix Feucht, Martha Unterberger, Iris Covanis, Athanasios Suls, Arvid Weckhuysen, Sarah Kaneva, Radka Caglayan, Hande Turkdogan, Dilsad Baykan, Betul Bebek, Nerses Ozbek, Ugur Hempelmann, Anne Schulz, Herbert Rüschendorf, Franz Trucks, Holger Nürnberg, Peter Avanzini, Giuliano Koeleman, Bobby P C Sander, Thomas Producer: 20120309 In: Epilepsia vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. [electronic resource] by Lemke, Johannes R Lal, Dennis Reinthaler, Eva M Steiner, Isabelle Nothnagel, Michael Alber, Michael Geider, Kirsten Laube, Bodo Schwake, Michael Finsterwalder, Katrin Franke, Andre Schilhabel, Markus Jähn, Johanna A Muhle, Hiltrud Boor, Rainer Van Paesschen, Wim Caraballo, Roberto Fejerman, Natalio Weckhuysen, Sarah De Jonghe, Peter Larsen, Jan Møller, Rikke S Hjalgrim, Helle Addis, Laura Tang, Shan Hughes, Elaine Pal, Deb K Veri, Kadi Vaher, Ulvi Talvik, Tiina Dimova, Petia Guerrero López, Rosa Serratosa, José M Linnankivi, Tarja Lehesjoki, Anna-Elina Ruf, Susanne Wolff, Markus Buerki, Sarah Wohlrab, Gabriele Kroell, Judith Datta, Alexandre N Fiedler, Barbara Kurlemann, Gerhard Kluger, Gerhard Hahn, Andreas Haberlandt, D Edda Kutzer, Christina Sperner, Jürgen Becker, Felicitas Weber, Yvonne G Feucht, Martha Steinböck, Hannelore Neophythou, Birgit Ronen, Gabriel M Gruber-Sedlmayr, Ursula Geldner, Julia Harvey, Robert J Hoffmann, Per Herms, Stefan Altmüller, Janine Toliat, Mohammad R Thiele, Holger Nürnberg, Peter Wilhelm, Christian Stephani, Ulrich Helbig, Ingo Lerche, Holger Zimprich, Fritz Neubauer, Bernd A Biskup, Saskia von Spiczak, Sarah Producer: 20131126 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. [electronic resource] by Ivanovski, Ivan Djuric, Olivera Caraffi, Stefano Giuseppe Santodirocco, Daniela Pollazzon, Marzia Rosato, Simonetta Cordelli, Duccio Maria Abdalla, Ebtesam Accorsi, Patrizia Adam, Margaret P Ajmone, Paola Francesca Badura-Stronka, Magdalena Baldo, Chiara Baldi, Maddalena Bayat, Allan Bigoni, Stefania Bonvicini, Federico Breckpot, Jeroen Callewaert, Bert Cocchi, Guido Cuturilo, Goran De Brasi, Daniele Devriendt, Koenraad Dinulos, Mary Beth Hjortshøj, Tina Duelund Epifanio, Roberta Faravelli, Francesca Fiumara, Agata Formisano, Debora Giordano, Lucio Grasso, Marina Grønborg, Sabine Iodice, Alessandro Iughetti, Lorenzo Kuburovic, Vladimir Kutkowska-Kazmierczak, Anna Lacombe, Didier Lo Rizzo, Caterina Luchetti, Anna Malbora, Baris Mammi, Isabella Mari, Francesca Montorsi, Giulia Moutton, Sebastien Møller, Rikke S Muschke, Petra Nielsen, Jens Erik Klint Obersztyn, Ewa Pantaleoni, Chiara Pellicciari, Alessandro Pisanti, Maria Antonietta Prpic, Igor Poch-Olive, Maria Luisa Raviglione, Federico Renieri, Alessandra Ricci, Emilia Rivieri, Francesca Santen, Gijs W Savasta, Salvatore Scarano, Gioacchino Schanze, Ina Selicorni, Angelo Silengo, Margherita Smigiel, Robert Spaccini, Luigina Sorge, Giovanni Szczaluba, Krzysztof Tarani, Luigi Tone, Luis Gonzaga Toutain, Annick Trimouille, Aurelien Valera, Elvis Terci Vergano, Samantha Schrier Zanotta, Nicoletta Zenker, Martin Conidi, Andrea Zollino, Marcella Rauch, Anita Zweier, Christiane Garavelli, Livia Producer: 20190201 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. [electronic resource] by

Ivanovski, Ivan
Djuric, Olivera
Caraffi, Stefano Giuseppe
Santodirocco, Daniela
Pollazzon, Marzia
Rosato, Simonetta
Cordelli, Duccio Maria
Abdalla, Ebtesam
Accorsi, Patrizia
Adam, Margaret P
Ajmone, Paola Francesca
Badura-Stronka, Magdalena
Baldo, Chiara
Baldi, Maddalena
Bayat, Allan
Bigoni, Stefania
Bonvicini, Federico
Breckpot, Jeroen
Callewaert, Bert
Cocchi, Guido
Cuturilo, Goran
De Brasi, Daniele
Devriendt, Koenraad
Dinulos, Mary Beth
Hjortshøj, Tina Duelund
Epifanio, Roberta
Faravelli, Francesca
Fiumara, Agata
Formisano, Debora
Giordano, Lucio
Grasso, Marina
Grønborg, Sabine
Iodice, Alessandro
Iughetti, Lorenzo
Kuburovic, Vladimir
Kutkowska-Kazmierczak, Anna
Lacombe, Didier
Lo Rizzo, Caterina
Luchetti, Anna
Malbora, Baris
Mammi, Isabella
Mari, Francesca
Montorsi, Giulia
Moutton, Sebastien
Møller, Rikke S
Muschke, Petra
Nielsen, Jens Erik Klint
Obersztyn, Ewa
Pantaleoni, Chiara
Pellicciari, Alessandro
Pisanti, Maria Antonietta
Prpic, Igor
Poch-Olive, Maria Luisa
Raviglione, Federico
Renieri, Alessandra
Ricci, Emilia
Rivieri, Francesca
Santen, Gijs W
Savasta, Salvatore
Scarano, Gioacchino
Schanze, Ina
Selicorni, Angelo
Silengo, Margherita
Smigiel, Robert
Spaccini, Luigina
Sorge, Giovanni
Szczaluba, Krzysztof
Tarani, Luigi
Tone, Luis Gonzaga
Toutain, Annick
Trimouille, Aurelien
Valera, Elvis Terci
Vergano, Samantha Schrier
Zanotta, Nicoletta
Zenker, Martin
Conidi, Andrea
Zollino, Marcella
Rauch, Anita
Zweier, Christiane
Garavelli, Livia

Producer: 20190201 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20

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