학술논문
'학술논문'
에서 검색결과 36건 | 목록
1~10
Periodical
Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p
Academic Journal
Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L.; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti‐Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F.
Academic Journal
Kreienkamp, Hans-Jürgen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril
Human Genetics. February, 2022, Vol. 141 Issue 2, p257, 16 p.
Academic Journal
Kindt, Alida; Kraus, Yvonne; Rasp, David; Foerster, Kai M.; Ahmidi, Narges; Flemmer, Andreas W.; Herber-Jonat, Susanne; Heinen, Florian; Weigand, Heike; Hankemeier, Thomas; Koletzko, Berthold; Krumsiek, Jan; Babl, Juergen; Hilgendorff, Anne
Nutrients; Oct2022, Vol. 14 Issue 19, p3912, 15p
Periodical
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E M; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F; Michaud, Jacques L; Lewis, Ann J; Zweier, Christiane; Reis, André; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen; Brilstra, Eva H; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H; Rudy, Natasha L; Dobyns, William B; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T; Klee, Eric W; Piton, Amelie; Gerard, Benedicte
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p
Electronic Resource
Genetica Klinische Genetica; Genetica Sectie Genoomdiagnostiek; Child Health; Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan
Electronic Resource
Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L.; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F.; Murch, Oliver; Irving, Rachel; Lynch, Sally A.; Mehta, Sarju G.; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M.; Westphall, Ian T.; Hughes, Susan S.; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C.; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S.; Rubboli, Guido; Bayat, Allan
Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava , S , Coulter , D , Smith , L , Vinorum , K , Cappuccio , G , Brunetti-Pierri , N , Torun , D , Arslan , M , Lauridsen , M F , Murch , O , Irving , R , Lynch , S A , Mehta , S G , Carmichael , J , Zonneveld-Huijssoon , E , de Vries , B , Kleefstra , T , Johannesen , K M , Westphall , I T , Hughes , S S , Smithson , S , Evans , J , Dudding-Byth , T , Simon , M , van Binsbergen , E , Herkert , J C , Beunders , G , Oppermann , H , Bakal , M , Møller , R S , Rubboli , G & Bayat , A 2023 , ' POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum ' , Clinical Genetics , vol. 104 , no. 2 , pp. 186-197 .
Academic Journal
Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Loebel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M.; Lessel, Davor
Academic Journal
Schalk, Audrey; Cousin, Margot A.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurelien; Lasseaux, Eulalie; Lacombre, Didier; Angelini, Chloe; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Raymond J.; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, A. Micheil; Kooy, R. Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth Rosen; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J.; Zweier, Christiane; Reis, Andre; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen L., I; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce R.; Skelton, Tammi; Thompson, Michelle L.; Robin, Nathaniel H.; Rudy, Natasha; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri A.; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Mau-them, Frederic Tran; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari J.; Zimmermann, Michael T.; Klee, Eric W.; Piton, Amelie; Gerard, Benedicte
Electronic Resource
Genetica Sectie Genoomdiagnostiek; Child Health; Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E M; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F; Michaud, Jacques L; Lewis, Ann J; Zweier, Christiane; Reis, André; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen; Brilstra, Eva H; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H; Rudy, Natasha L; Dobyns, William B; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A; Alembik, Yves; Durand, Benjamin; Tran Mau-Them, Frederic; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T; Klee, Eric W; Piton, Amelie; Gerard, Benedicte
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[AR] Weigand, Heike
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