Einträge von Kohlhase, Jürgen auf dem Publikationsserver

Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy , Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria , Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R. , Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar und Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. The American Journal of Human Genetics 90 (2), S. 369-377. Volltext nicht vorhanden.

Wieczorek, Dagmar, Shaw‐Smith, Charles, Kohlhase, Jürgen, Schmitt, Wolfgang, Buiting, Karin, Coffey, Alison, Howard, Eleanor, Hehr, Ute und Gillessen‐Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother? American Journal of Medical Genetics Part A 143A (11), S. 1135-1142. Volltext nicht vorhanden.

Tasse, Christiane, Böhringer, Stefan , Fischer, Sven, Lüdecke, Hermann-Josef, Albrecht, Beate, Horn, Denise, Janecke, Andreas , Kling, Rainer, König, Rainer, Lorenz, Birgit, Majewski, Frank, Maeyens, Elisabeth, Meinecke, Peter, Mitulla, Beate, Mohr, Christopher, Preischl, Monika, Umstadt, Horst, Kohlhase, Jürgen, Gillessen-Kaesbach, Gabriele und Wieczorek, Dagmar (2005) Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. European Journal of Medical Genetics 48 (4), S. 397-411. Volltext nicht vorhanden.