Torthaí cuardaigh - Hübner, Angela

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders de réir Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute, Kölbel, Heike

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation de réir Ravindran, Ethiraj, Hu, Hao, Yuzwa, Scott A., Hernandez-Miranda, Luis R., Kraemer, Nadine, Ninnemann, Olaf, Musante, Luciana, Boltshauser, Eugen, Schindler, Detlev, Hübner, Angela, Reinecker, Hans-Christian, Ropers, Hans-Hilger, Birchmeier, Carmen, Miller, Freda D., Wienker, Thomas F., Hübner, Christoph, Kaindl, Angela M.

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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies de réir Davidson, Ann E., Siddiqui, Fazeel M., Lopez, Michael A., Lunt, Peter, Carlson, Heather A., Moore, Brian E., Love, Seth, Born, Donald E., Roper, Helen, Majumdar, Anirban, Jayadev, Suman, Underhill, Hunter R., Smith, Corrine O., von der Hagen, Maja, Hubner, Angela, Jardine, Philip, Merrison, Andria, Curtis, Elizabeth, Cullup, Thomas, Jungbluth, Heinz, Cox, Mary O., Winder, Thomas L., Abdel Salam, Hossam, Li, Jun Z., Moore, Steven A., Dowling, James J.

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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect de réir Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns

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