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	21.	STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. [electronic resource] by Marková, Simona Poisson Brožková, Dana Šafka Laššuthová, Petra Mészárosová, Anna Krůtová, Marcela Neupauerová, Jana Rašková, Dagmar Trková, Marie Staněk, David Seeman, Pavel Producer: 20180727 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease. [electronic resource] by Laššuthová, Petra Žaliová, Markéta Inoue, Ken Haberlová, Jana Sixtová, Klára Sakmaryová, Iva Paděrová, Kateřina Mazanec, Radim Zámečník, Josef Šišková, Dana Garbern, Jim Seeman, Pavel Producer: 20151105 In: Journal of child neurology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. [electronic resource] by Sancho, Paula Bartesaghi, Luca Miossec, Olivia García-García, Francisco Ramírez-Jiménez, Laura Siddell, Anna Åkesson, Elisabet Hedlund, Eva Laššuthová, Petra Pascual-Pascual, Samuel I Sevilla, Teresa Kennerson, Marina Lupo, Vincenzo Chrast, Roman Espinós, Carmen Producer: 20200207 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. [electronic resource] by Safka Brozkova, Dana Deconinck, Tine Griffin, Laurie Beth Ferbert, Andreas Haberlova, Jana Mazanec, Radim Lassuthova, Petra Roth, Christian Pilunthanakul, Thanita Rautenstrauss, Bernd Janecke, Andreas R Zavadakova, Petra Chrast, Roman Rivolta, Carlo Zuchner, Stephan Antonellis, Anthony Beg, Asim A De Jonghe, Peter Senderek, Jan Seeman, Pavel Baets, Jonathan Producer: 20151013 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)
	25.	Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. [electronic resource] by Lassuthova, Petra Rebelo, Adriana P Ravenscroft, Gianina Lamont, Phillipa J Davis, Mark R Manganelli, Fiore Feely, Shawna M Bacon, Chelsea Brožková, Dana Šafka Haberlova, Jana Mazanec, Radim Tao, Feifei Saghira, Cima Abreu, Lisa Courel, Steve Powell, Eric Buglo, Elena Bis, Dana M Baxter, Megan F Ong, Royston W Marns, Lorna Lee, Yi-Chung Bai, Yunhong Isom, Daniel G Barro-Soria, René Chung, Ki W Scherer, Steven S Larsson, H Peter Laing, Nigel G Choi, Byung-Ok Seeman, Pavel Shy, Michael E Santoro, Lucio Zuchner, Stephan Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. [electronic resource] by Reijnders, Margot R F Janowski, Robert Alvi, Mohsan Self, Jay E van Essen, Ton J Vreeburg, Maaike Rouhl, Rob P W Stevens, Servi J C Stegmann, Alexander P A Schieving, Jolanda Pfundt, Rolph van Dijk, Katinke Smeets, Eric Stumpel, Connie T R M Bok, Levinus A Cobben, Jan Maarten Engelen, Marc Mansour, Sahar Whiteford, Margo Chandler, Kate E Douzgou, Sofia Cooper, Nicola S Tan, Ene-Choo Foo, Roger Lai, Angeline H M Rankin, Julia Green, Andrew Lönnqvist, Tuula Isohanni, Pirjo Williams, Shelley Ruhoy, Ilene Carvalho, Karen S Dowling, James J Lev, Dorit L Sterbova, Katalin Lassuthova, Petra Neupauerová, Jana Waugh, Jeff L Keros, Sotirios Clayton-Smith, Jill Smithson, Sarah F Brunner, Han G van Hoeckel, Ceciel Anderson, Mel Clowes, Virginia E Siu, Victoria Mok Ddd Study, The Selber, Paulo Leventer, Richard J Nellaker, Christoffer Niessing, Dierk Hunt, David Baralle, Diana Producer: 20190910 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. [electronic resource] by Marini, Carla Porro, Alessandro Rastetter, Agnès Dalle, Carine Rivolta, Ilaria Bauer, Daniel Oegema, Renske Nava, Caroline Parrini, Elena Mei, Davide Mercer, Catherine Dhamija, Radhika Chambers, Chelsea Coubes, Christine Thévenon, Julien Kuentz, Paul Julia, Sophie Pasquier, Laurent Dubourg, Christèle Carré, Wilfrid Rosati, Anna Melani, Federico Pisano, Tiziana Giardino, Maria Innes, A Micheil Alembik, Yves Scheidecker, Sophie Santos, Manuela Figueiroa, Sonia Garrido, Cristina Fusco, Carlo Frattini, Daniele Spagnoli, Carlotta Binda, Anna Granata, Tiziana Ragona, Francesca Freri, Elena Franceschetti, Silvana Canafoglia, Laura Castellotti, Barbara Gellera, Cinzia Milanesi, Raffaella Mancardi, Maria Margherita Clark, Damien R Kok, Fernando Helbig, Katherine L Ichikawa, Shoji Sadler, Laurie Neupauerová, Jana Laššuthova, Petra Šterbová, Katalin Laridon, Annick Brilstra, Eva Koeleman, Bobby Lemke, Johannes R Zara, Federico Striano, Pasquale Soblet, Julie Smits, Guillaume Deconinck, Nicolas Barbuti, Andrea DiFrancesco, Dario LeGuern, Eric Guerrini, Renzo Santoro, Bina Hamacher, Kay Thiel, Gerhard Moroni, Anna DiFrancesco, Jacopo C Depienne, Christel Producer: 20190715 In: Brain : a journal of neurology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. [electronic resource] by Mignot, Cyril McMahon, Aoife C Bar, Claire Campeau, Philippe M Davidson, Claire Buratti, Julien Nava, Caroline Jacquemont, Marie-Line Tallot, Marilyn Milh, Mathieu Edery, Patrick Marzin, Pauline Barcia, Giulia Barnerias, Christine Besmond, Claude Bienvenu, Thierry Bruel, Ange-Line Brunga, Ledia Ceulemans, Berten Coubes, Christine Cristancho, Ana G Cunningham, Fiona Dehouck, Marie-Bertille Donner, Elizabeth J Duban-Bedu, Bénédicte Dubourg, Christèle Gardella, Elena Gauthier, Julie Geneviève, David Gobin-Limballe, Stéphanie Goldberg, Ethan M Hagebeuk, Eveline Hamdan, Fadi F Hančárová, Miroslava Hubert, Laurence Ioos, Christine Ichikawa, Shoji Janssens, Sandra Journel, Hubert Kaminska, Anna Keren, Boris Koopmans, Marije Lacoste, Caroline Laššuthová, Petra Lederer, Damien Lehalle, Daphné Marjanovic, Dragan Métreau, Julia Michaud, Jacques L Miller, Kathryn Minassian, Berge A Morales, Joannella Moutard, Marie-Laure Munnich, Arnold Ortiz-Gonzalez, Xilma R Pinard, Jean-Marc Prchalová, Darina Putoux, Audrey Quelin, Chloé Rosen, Alyssa R Roume, Joelle Rossignol, Elsa Simon, Marleen E H Smol, Thomas Shur, Natasha Shelihan, Ivan Štěrbová, Katalin Vyhnálková, Emílie Vilain, Catheline Soblet, Julie Smits, Guillaume Yang, Samuel P van der Smagt, Jasper J van Hasselt, Peter M van Kempen, Marjan Weckhuysen, Sarah Helbig, Ingo Villard, Laurent Héron, Delphine Koeleman, Bobby Møller, Rikke S Lesca, Gaetan Helbig, Katherine L Nabbout, Rima Verbeek, Nienke E Depienne, Christel Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. [electronic resource] by Mignot, Cyril McMahon, Aoife C Bar, Claire Campeau, Philippe M Davidson, Claire Buratti, Julien Nava, Caroline Jacquemont, Marie-Line Tallot, Marilyn Milh, Mathieu Edery, Patrick Marzin, Pauline Barcia, Giulia Barnerias, Christine Besmond, Claude Bienvenu, Thierry Bruel, Ange-Line Brunga, Ledia Ceulemans, Berten Coubes, Christine Cristancho, Ana G Cunningham, Fiona Dehouck, Marie-Bertille Donner, Elizabeth J Duban-Bedu, Bénédicte Dubourg, Christèle Gardella, Elena Gauthier, Julie Geneviève, David Gobin-Limballe, Stéphanie Goldberg, Ethan M Hagebeuk, Eveline Hamdan, Fadi F Hančárová, Miroslava Hubert, Laurence Ioos, Christine Ichikawa, Shoji Janssens, Sandra Journel, Hubert Kaminska, Anna Keren, Boris Koopmans, Marije Lacoste, Caroline Laššuthová, Petra Lederer, Damien Lehalle, Daphné Marjanovic, Dragan Métreau, Julia Michaud, Jacques L Miller, Kathryn Minassian, Berge A Morales, Joannella Moutard, Marie-Laure Munnich, Arnold Ortiz-Gonzalez, Xilma R Pinard, Jean-Marc Prchalová, Darina Putoux, Audrey Quelin, Chloé Rosen, Alyssa R Roume, Joelle Rossignol, Elsa Simon, Marleen E H Smol, Thomas Shur, Natasha Shelihan, Ivan Štěrbová, Katalin Vyhnálková, Emílie Vilain, Catheline Soblet, Julie Smits, Guillaume Yang, Samuel P van der Smagt, Jasper J van Hasselt, Peter M van Kempen, Marjan Weckhuysen, Sarah Helbig, Ingo Villard, Laurent Héron, Delphine Koeleman, Bobby Møller, Rikke S Lesca, Gaetan Helbig, Katherine L Nabbout, Rima Verbeek, Nienke E Depienne, Christel Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Aug 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)