Canlyniadau Chwilio - Sharkia, Rajech
- Dangos 1 - 13 canlyniadau o 13
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Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report gan Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Cyhoeddwyd 2014Text -
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Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority gan Mayer, Anja K., Balousha, Ghassan, Sharkia, Rajech, Mahajnah, Muhammad, Ayesh, Suhail, Schulze, Martin, Buchert, Rebecca, Zobor, Ditta, Azem, Abdussalam, Schöls, Ludger, Bauer, Peter, Wissinger, Bernd
Cyhoeddwyd 2020Text -
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CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis gan Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
Cyhoeddwyd 2017Text -
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus gan Mayer, Anja K., Mahajnah, Muhammad, Thomas, Mervyn G., Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I., Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd
Cyhoeddwyd 2019Text -
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery gan Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger
Cyhoeddwyd 2020Text -
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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery gan Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, Falana, Mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger
Cyhoeddwyd 2021Text -
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation gan Mallaret, Martial, Synofzik, Matthis, Lee, Jaeho, Sagum, Cari A., Mahajnah, Muhammad, Sharkia, Rajech, Drouot, Nathalie, Renaud, Mathilde, Klein, Fabrice A. C., Anheim, Mathieu, Tranchant, Christine, Mignot, Cyril, Mandel, Jean-Louis, Bedford, Mark, Bauer, Peter, Salih, Mustafa A., Schüle, Rebecca, Schöls, Ludger, Aldaz, C. Marcelo, Koenig, Michel
Cyhoeddwyd 2014Text -
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia gan Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca
Cyhoeddwyd 2017Text