Arama Sonuçları - Sharkia, Rajech
- Gösterilen 1 - 13 sonuçlar arası kayıtlar. 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 Yazar: Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Baskı/Yayın Bilgisi 2014Metin -
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Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority Yazar: 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
Baskı/Yayın Bilgisi 2020Metin -
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CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis Yazar: 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
Baskı/Yayın Bilgisi 2017Metin -
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus Yazar: 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
Baskı/Yayın Bilgisi 2019Metin -
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery Yazar: 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
Baskı/Yayın Bilgisi 2020Metin -
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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 Yazar: 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
Baskı/Yayın Bilgisi 2021Metin -
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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation Yazar: 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
Baskı/Yayın Bilgisi 2014Metin -
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia Yazar: 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
Baskı/Yayın Bilgisi 2017Metin