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Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B; Lindner, Martin; ... (2023). Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. Journal of inherited metabolic disease, 46(3), pp. 482-519. Wiley 10.1002/jimd.12566
Locher, Maurus; Jukic, Emina; Vogi, Verena; Keller, Markus A; Kröll, Teresa; Schwendinger, Simon; Oberhuber, Klaus; Verdorfer, Irmgard; Mühlegger, Beatrix E; Witsch-Baumgartner, Martina; Nachbaur, David; Willenbacher, Wolfgang; Gunsilius, Eberhard; Wolf, Dominik; Zschocke, Johannes; Steiner, Normann (2023). Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. European journal of haematology, 110(3), pp. 296-304. Wiley 10.1111/ejh.13905
Toth, Bettina; Bohlmann, Michael; Hancke, Katharina; Kuon, Ruben; Nawroth, Frank; von Otte, Sören; Rogenhofer, Nina; Rudnik-Schöneborn, Sabine; Schleußner, Ekkehard; Tempfer, Clemens; Vomstein, Kilian; Wischmann, Tewes; von Wolff, Michael; Würfel, Wolfgang; Zschocke, Johannes (2023). Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/050, May 2022). Geburtshilfe und Frauenheilkunde, 83(1), pp. 49-78. Thieme 10.1055/a-1895-9940
Toth, Bettina; Würfel, Wolfgang; Bohlmann, Michael; Zschocke, Johannes; Rudnik-Schöneborn, Sabine; Nawroth, Frank; Schleußner, Ekkehard; Rogenhofer, Nina; Wischmann, Tewes; von Wolff, Michael; Hancke, Katharina; von Otte, Sören; Kuon, Ruben; Feil, Katharina; Tempfer, Clemens (2018). Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050). Geburtshilfe und Frauenheilkunde, 78(4), pp. 364-381. Thieme 10.1055/a-0586-4568
Zschocke, Johannes; Schossig, Anna; Bosshardt, Dieter; Karall, Daniela; Glueckert, Rudolf; Kapferer-Seebacher, Ines (2017). Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction. Archives of oral biology, 80, pp. 222-228. Elsevier Science 10.1016/j.archoralbio.2017.04.009
Schossig, Anna; Bloch-Zupan, Agnès; Lussi, Adrian; Wolf, Nicole I; Raskin, Salmo; Cohen, Monika; Giuliano, Fabienne; Jurgens, Julie; Krabichler, Birgit; Koolen, David A; de Macena Sobreira, Nara Lygia; Maurer, Elisabeth; Muller-Bolla, Michèle; Penzien, Johann; Zschocke, Johannes; Kapferer-Seebacher, Ines (2017). SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. Journal of medical genetics, 54(1), pp. 54-62. BMJ Publishing Group 10.1136/jmedgenet-2016-103988
