Search Results - Dworschak, Gabriel C.

Exome survey and candidate gene re-sequencing identifies novel exstrophy candidate genes and implicates LZTR1 in disease formation by Köllges, Ricarda (Author) , Stegmann, Jil (Author) , Schneider, Sophia (Author) , Waffenschmidt, Lea (Author) , Fazaal, Julia (Author) , Breuer, Katinka (Author) , Hilger, Alina C. (Author) , Dworschak, Gabriel C. (Author) , Mingardo, Enrico (Author) , Rösch, Wolfgang (Author) , Hofmann, Aybike (Author) , Neissner, Claudia (Author) , Ebert, Anne-Karolin (Author) , Stein, Raimund (Author) , Younsi, Nina (Author) , Hirsch-Koch, Karin (Author) , Schmiedeke, Eberhard (Author) , Zwink, Nadine (Author) , Jenetzky, Ekkehart (Author) , Thiele, Holger (Author) , Ludwig, Kerstin U. (Author) , Reutter, Heiko (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy by Mingardo, Enrico (Author) , Beaman, Glenda (Author) , Grote, Philip (Author) , Nordenskjöld, Agneta (Author) , Newman, William (Author) , Woolf, Adrian S. (Author) , Eckstein, Markus (Author) , Hilger, Alina C. (Author) , Dworschak, Gabriel C. (Author) , Rösch, Wolfgang (Author) , Ebert, Anne-Karolin (Author) , Stein, Raimund (Author) , Brusco, Alfredo (Author) , Di Grazia, Massimo (Author) , Tamer, Ali (Author) , Torres, Federico M. (Author) , Hernandez, Jose L. (Author) , Erben, Philipp (Author) , Maj, Carlo (Author) , Olmos, Jose M. (Author) , Riancho, Jose A. (Author) , Valero, Carmen (Author) , Hostettler, Isabel C. (Author) , Houlden, Henry (Author) , Werring, David J. (Author) , Schumacher, Johannes (Author) , Gehlen, Jan (Author) , Giel, Ann-Sophie (Author) , Buerfent, Benedikt C. (Author) , Arkani, Samara (Author) , Åkesson, Elisabeth (Author) , Rotstein, Emilia (Author) , Ludwig, Michael (Author) , Holmdahl, Gundela (Author) , Giorgio, Elisa (Author) , Berettini, Alfredo (Author) , Keene, David (Author) , Cervellione, Raimondo M. (Author) , Younsi, Nina (Author) , Ortlieb, Melissa (Author) , Oswald, Josef (Author) , Haid, Bernhard (Author) , Promm, Martin (Author) , Neissner, Claudia (Author) , Hirsch, Karin (Author) , Stehr, Maximilian (Author) , Schäfer, Frank-Mattias (Author) , Schmiedeke, Eberhard (Author) , Boemers, Thomas M. (Author) , van Rooij, Iris A. L. M. (Author) , Feitz, Wouter F. J. (Author) , Marcelis, Carlo L. M. (Author) , Lacher, Martin (Author) , Nelson, Jana (Author) , Ure, Benno (Author) , Fortmann, Caroline (Author) , Gale, Daniel P. (Author) , Chan, Melanie M. Y. (Author) , Ludwig, Kerstin U. (Author) , Nöthen, Markus Maria (Author) , Heilmann, Stefanie (Author) , Zwink, Nadine (Author) , Jenetzky, Ekkehart (Author) , Odermatt, Benjamin (Author) , Knapp, Michael (Author) , Reutter, Heiko (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance by Dworschak, Gabriel C. (Author) , Zwink, Nadine (Author) , Schmiedeke, Eberhard (Author) , Mortazawi, Kiarasch (Author) , Märzheuser, Stefanie (Author) , Reinshagen, Konrad (Author) , Leonhardt, Johannes (Author) , Gómez, Barbara (Author) , Volk, Patrick (Author) , Rißmann, Anke (Author) , Jenetzky, Ekkehart (Author) , Reutter, Heiko (Author) ,

• Resolving-System, Volltext

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance by Dworschak, Gabriel C. (Author) , Zwink, Nadine (Author) , Schmiedeke, Eberhard (Author) , Mortazawi, Kiarasch (Author) , Märzheuser, Stefanie (Author) , Reinshagen, Konrad (Author) , Leonhardt, Johannes (Author) , Gómez, Barbara (Author) , Volk, Patrick (Author) , Rißmann, Anke (Author) , Jenetzky, Ekkehart (Author) , Reutter, Heiko (Author) ,

• Resolving-System, kostenfrei, Volltext
• Resolving-System, kostenfrei, Volltext

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies by Zeidler, Claudia (Author) , Woelfle, Joachim (Author) , Draaken, Markus (Author) ,

Other Authors: “…Dworschak, Gabriel C.…”

• Verlag, lizenzpflichtig, Volltext
• Verlag, Abstract, Volltext

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association by Hilger, Alina Christine (Author) , Schramm, Charlotte (Author) , Pennimpede, Tracie (Author) , Wittler, Lars (Author) , Dworschak, Gabriel C. (Author) , Bartels, Enrika (Author) , Engels, Hartmut (Author) , Zink, Alexander M. (Author) , Degenhardt, Franziska (Author) , Müller, Annette M. (Author) , Schmiedeke, Eberhard (Author) , Grasshoff-Derr, Sabine (Author) , Märzheuser, Stefanie (Author) , Hosie, Stuart (Author) , Holland-Cunz, Stefan (Author) , Wijers, Charlotte HW (Author) , Marcelis, Carlo LM (Author) , van Rooij, Iris ALM (Author) , Hildebrandt, Friedhelm (Author) , Herrmann, Bernhard G. (Author) , Nöthen, Markus Maria (Author) , Ludwig, Michael (Author) , Reutter, Heiko (Author) , Draaken, Markus (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal... by Dworschak, Gabriel C. (Author) , Draaken, Markus (Author) , Marcelis, Carlo (Author) ,

• Verlag, Abstract, Volltext