Kết quả tìm kiếm - Freilinger, Michael

Behavioural biomarkers of typical Rett syndrome: moving towards early identification Bằng Einspieler, Christa, Freilinger, Michael, Marschik, Peter B.

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Isolated cytochrome c oxidase deficiency as a cause of MELAS Bằng Rossmanith, Walter, Freilinger, Michael, Roka, Julia, Raffelsberger, Thomas, Moser-Their, Karin, Prayer, Daniela, Bernert, Günther, Bittner, Reginald

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Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation Bằng Steininger, Jolanda, Rossmanith, Raphael, Geier, Christoph B., Leiss-Piller, Alexander, Thonhauser, Lukas, Weiss, Simone, Hainfellner, Johannes A., Freilinger, Michael, Schmidt, Wolfgang M., Eibl, Martha M., Wolf, Hermann M.

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Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in... Bằng Ganor, Yonatan, Goldberg-Stern, Hadassa, Amrom, Dina, Lerman-Sagie, Tally, Teichberg, Vivian I., Pelled, Dori, Futerman, Anthony H., Ben Zeev, Bruria, Freilinger, Michael, Verheulpen, Denis, Van Bogaert, Patrick, Levite, Mia

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease Bằng Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy Bằng De Simoni, Desiree, Ricken, Gerda, Winklehner, Michael, Koneczny, Inga, Karenfort, Michael, Hustedt, Ulf, Seidel, Ulrich, Abdel-Mannan, Omar, Munot, Pinki, Rinaldi, Simon, Steen, Claudia, Freilinger, Michael, Breu, Markus, Seidl, Rainer, Reindl, Markus, Wanschitz, Julia, Lleixà, Cinta, Bernert, Günther, Wandinger, Klaus-Peter, Junker, Ralf, Querol, Luis, Leypoldt, Frank, Rostásy, Kevin, Höftberger, Romana

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Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia Bằng Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G. L., Robinson, Angela, Hantke, Janina, Hammond, Carrie L., Gilbert, Daniel F., Freilinger, Michael, Ryan, Monique, Kruer, Michael C., Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H., Harvey, Robert J., Lynch, Joseph W., Rees, Mark I.

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New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms Bằng Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G. L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J. G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome Bằng Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

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