Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Published in BMC medical genetics (09.07.2010)
Published in BMC medical genetics (09.07.2010)
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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
Clayton, Peter, Fischer, Björn, Mann, Anuska, Mansour, Sahar, Rossier, Eva, Veen, Markus, Lang, Christine, Baasanjav, Sevjidmaa, Kieslich, Moritz, Brossuleit, Katja, Gravemann, Sophia, Schnipper, Nele, Karbasyian, Mohsen, Demuth, Ilja, Zwerger, Monika, Vaya, Amparo, Utermann, Gerd, Mundlos, Stefan, Stricker, Sigmar, Sperling, Karl, Hoffmann, Katrin
Published in Nucleus (Austin, Tex.) (01.07.2010)
Published in Nucleus (Austin, Tex.) (01.07.2010)
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Unilateral Multifocal Inner Ear and Internal Auditory Canal or Cerebellopontine Angle Cochleovestibular Schwannomas-Genetic Analysis and Management by Surgical Resection and Cochlear Implantation
Plontke, Stefan K, Hoffmann, Katrin, Caye-Thomasen, Per, Baasanjav, Sevjidmaa, Kösling, Sabrina, Leisz, Sandra, Liebau, Arne, Mawrin, Christian, Rahne, Torsten, Scheffler, Jonas, Strauss, Christian, Siebolts, Udo
Published in Otology & neurotology (01.06.2024)
Published in Otology & neurotology (01.06.2024)
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Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Baasanjav, Sevjidmaa, Al-Gazali, Lihadh, Hashiguchi, Taishi, Mizumoto, Shuji, Fischer, Bjoern, Horn, Denise, Seelow, Dominik, Ali, Bassam R., Aziz, Samir A.A., Langer, Ruth, Saleh, Ahmed A.H., Becker, Christian, Nürnberg, Gudrun, Cantagrel, Vincent, Gleeson, Joseph G., Gomez, Delphine, Michel, Jean-Baptiste, Stricker, Sigmar, Lindner, Tom H., Nürnberg, Peter, Sugahara, Kazuyuki, Mundlos, Stefan, Hoffmann, Katrin
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene
Graul-Neumann, Luitgard M., Kienitz, Tina, Robinson, Peter N., Baasanjav, Sevjidmaa, Karow, Benjamin, Gillessen-Kaesbach, Gabriele, Fahsold, Raimund, Schmidt, Hartmut, Hoffmann, Katrin, Passarge, Eberhard
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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