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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects Bukowska-Olech, Ewelina; Sowinska-Seidler, Anna; Larysz, Dawid; Gawlinski, Pawel; Koczyk, Grzegorz; Popiel, Delfina; Gurba-Bryskiewicz, Lidia; Materna-Kiryluk, Anna; Adamek, Zuzanna; Szczepankiewicz, Aleksandra; Dominiak, Pawel; Glista, Filip; Matuszewska, Karolina; Jamsheer, Aleksander Share Save
Position effects at the FGF8 locus are associated with femoral hypoplasia Socha, Magdalena; Sowinska-Seidler, Anna; Melo, Uira Souto; Kragesteen, Bjort K.; Franke, Martin; Heinrich, Verena; Schopflin, Robert; Nagel, Inga; Gruchy, Nicolas; Mundlos, Stefan; Sreenivasan, Varun K. A.; Lopez, Cristina; Vingron, Martin; Bukowska-Olech, Ewelina; Spielmann, Malte; Jamsheer, Aleksander Share Save
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Duplication of 10q24 locus: broadening the clinical and radiological spectrum Holder-Espinasse, Muriel; Jamsheer, Aleksander; Escande, Fabienne; Andrieux, Joris; Petit, Florence; Sowinska-Seidler, Anna; Socha, Magdalena; Jakubiuk-Tomaszuk, Anna; Gerard, Marion; Mathieu-Dramard, Michele; Cormier-Daire, Valerie; Verloes, Alain; Toutain, Annick; Plessis, Ghislaine; Jonveaux, Philippe; Baumann, Clarisse; David, Albert; Farra, Chantal; Colin, Estelle; Jacquemont, Sebastien; Rossi, Annick; Mansour, Sahar; Ghali, Neeti; Moncla, Anne; Lahiri, Nayana; Hurst, Jane; Pollina, Elena; Patch, Christine; Ahn, Joo Wook; Valat, Anne-Sylvie; Mezel, Aurelie; Bourgeot, Philippe; Zhang, David; Manouvrier-Hanu, Sylvie Share Save
Noncoding copy-number variations are associated with congenital limb malformation Floettmann, Ricarda; Kragesteen, Bjort K.; Geuer, Sinje; Socha, Magdalena; Allou, Lila; Sowinska-Seidler, Anna; de Jarcy, Laure Bosquillon; Wagner, Johannes; Jamsheer, Aleksander; Oehl-Jaschkowitz, Barbara; Wittler, Lars; de Silva, Deepthi; Kurth, Ingo; Maya, Idit; Santos-Simarro, Fernando; Huelsemann, Wiebke; Klopocki, Eva; Mountford, Roger; Fryer, Alan; Borck, Guntram; Horn, Denise; Lapunzina, Pablo; Wilson, Meredith; Mascrez, Benedicte; Duboule, Denis; Mundlos, Stefan; Spielmann, Malte Share Save
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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families Tayebi, Naeimeh; Jamsheer, Aleksander; Floettmann, Ricarda; Sowinska-Seidler, Anna; Doelken, Sandra C.; Oehl-Jaschkowitz, Barbara; Huelsemann, Wiebke; Habenicht, Rolf; Klopocki, Eva; Mundlos, Stefan; Spielmann, Malte Share Save
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