학술논문
'학술논문'
에서 검색결과 73건 | 목록
1~10
Academic Journal
Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andrés, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Kummer, Sebastian; Klee, Dirk; Kircheis, Gerald; Friedt, Michael; Schaper, Joerg; Häussinger, Dieter; Mayatepek, Ertan; Meissner, Thomas
Academic Journal
Schmetz, Ariane; Schaper, Joerg; Thelen, Simon; Rana, Majeed; Klenzner, Thomas; Schaumann, Katharina; Beygo, Jasmin; Surowy, Harald; Luedecke, Hermann-Josef; Wieczorek, Dagmar
Academic Journal
Escherich, Carolin; Boetticher, Benedikt; Harmsen, Stefani; Hoemberg, Marc; Schaper, Joerg; Lorenz, Myriam Ricarda; Schwarz, Klaus; Borkhardt, Arndt; Oommen, Prasad Thomas
Academic Journal
Schmetz, Ariane; Xiong, Xing; Cesarato, Nicole; Basmanav, Fitnat Buket; Gierthmuehlen, Petra; Schaper, Joerg; Schlieper, Daniel; Wehner, Maria; Thiele, Holger; Frank, Jorge; Betz, Regina C.; Redler, Silke
Academic Journal
BMC Pediatrics; 1/15/2018, Vol. 18, p1-N.PAG, 5p, 2 Black and White Photographs, 1 Diagram
Biallelic variants in CRIPTcause a Rothmund-Thomson-like syndrome with increased cellular senescence
Periodical
Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andrés, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix
Genetics in Medicine; July 2023, Vol. 25 Issue: 7
Academic Journal
Fremerey, Julia; Balzer, Stefan; Brozou, Triantafyllia; Schaper, Joerg; Borkhardt, Arndt; Kuhlen, Michaela
Familial Cancer; Jul2017, Vol. 16 Issue 3, p401-405, 5p
Periodical
Taeubner, Julia; Brozou, Triantafyllia; Qin, Nan; Bartl, Jasmin; Ginzel, Sebastian; Schaper, Joerg; Felsberg, Joerg; Fulda, Simone; Vokuhl, Christian; Borkhardt, Arndt; Kuhlen, Michaela
European Journal of Human Genetics: EJHG; January 2018, Vol. 26 Issue: 1 p137-142, 6p
Academic Journal
Foehrenbach, Melanie; Abou Jamra, Rami; Borkhardt, Arndt; Brozou, Triantafyllia; Muschke, Petra; Popp, Bernt; Rey, Linda K.; Schaper, Joerg; Surowy, Harald; Zenker, Martin; Zweier, Christiane; Wieczorek, Dagmar; Redler, Silke
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[AR] SCHAPER, JOERG
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