Anzahl der Einträge: 3.
2016
von Lowtzow, Catharina,
Hofmann, Andrea,
Zhang, Rong,
Marsch, Florian,
Ebert, Anne-Karoline,
Rösch, Wolfgang,
Stein, Raimund,
Boemers, Thomas M.,
Hirsch, Karin,
Marcelis, Carlo,
Feitz, Wouter F. J.,
Brusco, Alfredo ,
Migone, Nicola,
Di Grazia, Massimo,
Moebus, Susanne,
Nöthen, Markus M.,
Reutter, Heiko,
Ludwig, Michael und
Draaken, Markus
(2016)
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
BMC Medical Genetics 17 (1).
Volltext nicht vorhanden.
2014
Reutter, Heiko,
Draaken, Markus ,
Pennimpede, Tracie,
Wittler, Lars,
Brockschmidt, Felix F.,
Ebert, Anne-Karolin,
Bartels, Enrika,
Rösch, Wolfgang,
Boemers, Thomas M.,
Hirsch, Karin,
Schmiedeke, Eberhard,
Meesters, Christian,
Becker, Tim,
Stein, Raimund,
Utsch, Boris,
Mangold, Elisabeth,
Nordenskjöld, Agneta,
Barker, Gillian,
Kockum, Christina Clementsson,
Zwink, Nadine,
Holmdahl, Gundula,
Läckgren, Göran,
Jenetzky, Ekkehart,
Feitz, Wouter F.J.,
Marcelis, Carlo,
Wijers, Charlotte H.W.,
Van Rooij, Iris A.L.M.,
Gearhart, John P.,
Herrmann, Bernhard G.,
Ludwig, Michael,
Boyadjiev, Simeon A.,
Nöthen, Markus M. und
Mattheisen, Manuel
(2014)
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Human Molecular Genetics 23 (20), S. 5536-5544.
Volltext nicht vorhanden.
2013
Voigt, Claudia,
Mégarbané, André,
Neveling, Kornelia,
Czeschik, Johanna Christina ,
Albrecht, Beate,
Callewaert, Bert ,
von Deimling, Florian,
Hehr, Andreas,
Falkenberg Smeland, Marie,
König, Rainer,
Kuechler, Alma,
Marcelis, Carlo,
Puiu, Maria,
Reardon, Willie,
Riise Stensland, Hilde Monica Frostad,
Schweiger, Bernd ,
Steehouwer, Marloes,
Teller, Christopher,
Martin, Marcel ,
Rahmann, Sven,
Hehr, Ute,
Brunner, Han G,
Lüdecke, Hermann-Josef und
Wieczorek, Dagmar
(2013)
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Orphanet Journal of Rare Diseases 8 (1).
Volltext nicht vorhanden.
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