학술논문
'학술논문'
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1~10
Academic Journal
Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; García-Cazorla, Àngels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H.C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L.
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H.; Hişmi, Burcu; Honzik, Tomas; Hübschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thöny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
In Molecular Genetics and Metabolism July 2023 139(3)
Academic Journal
Cosgun, Zülfü C.; Hünseler, Christoph; Schönenkorb, Jana; Wurm, Juliane; Klein, Florian; Heger, Eva; Knops, Elena; Sierra-Aragón, Saleta; Kretschmer, Alina Chloé; Sprute, Rosanne; Kossow, Annelene; Hellmich, Martin; Shah-Hosseini, Kija; Weiss, Michael; Goedicke-Fritz, Sybelle; Kaiser, Elisabeth; Meyer, Sascha; Seiwert, Nastasja; Smola, Sigrun; Pfuhl, Thorsten; Lohse, Stefan; Schupp, Anna-Kathrin; Timm, Jörg; Gröne, Nehle; Lesmann, Hellen; Bredahl, Renate; Schneble, Lukas; Turinsky, Martin; Patry, Christian; Hoffmann, Georg F; Müller, Barbara; Börner, Kathleen; Schnitzler, Paul; Heuser, Anke-Mareil; Welker, Andreas; von Both, Ulrich; Kern, Anna; Joachim, Alexander; Dewald, Felix; Suárez, Isabelle; Zemlin, Michael; Lang, Isabelle; Stutz, Regine; Marthaler, Anna; Bosse, Hans Martin; Lübke, Nadine; Münch, Juliane; Bernard, Marie-Annett; Jeltsch, Kathrin; Tönshoff, Burkhard; Weidner, Niklas; Kräusslich, Hans-Georg; Birzele, Lena; Hübner, Johannes; Schmied, Patricia; Meyer-Bühn, Melanie; Horemheb-Rubio, Gibran; Cornely, Oliver A.; Haverkamp, Heinz; Wiesmüller, Gerhard; Fätkenheuer, Gerd; Hero, Barbara; Kaiser, Rolf; Dötsch, Jörg; Rybniker, Jan
In EClinicalMedicine September 2021 39
Academic Journal
Julia‐Palacios, Natalia Alexandra; Kuseyri Hübschmann, Oya; Olivella, Mireia; Pons, Roser; Horvath, Gabriella; Lücke, Thomas; Fung, Cheuk‐Wing; Wong, Suet‐Na; Cortès‐Saladelafont, Elisenda; Rovira‐Remisa, M. Mar; Yıldız, Yılmaz; Mercimek‐Andrews, Saadet; Assmann, Birgit; Stevanović, Galina; Manti, Filippo; Brennenstuhl, Heiko; Jung‐Klawitter, Sabine; Jeltsch, Kathrin; Sivri, H. Serap; Garbade, Sven F.
Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p447-462, 16p
Academic Journal
Yıldız, Yılmaz; Kuseyri Hübschmann, Oya; Akgöz Karaosmanoğlu, Ayça; Manti, Filippo; Karaca, Meryem; Schwartz, Ida Vanessa D.; Pons, Roser; López‐Laso, Eduardo; Palacios, Natalia Alexandra Julia; Porta, Francesco; Kavecan, Ivana; Balcı, Mehmet Cihan; Dy‐Hollins, Marisela E.; Wong, Suet‐Na; Oppebøen, Mari; Medeiros, Leonardo Simão; de Paula, Leila Cristina Pedroso; García‐Cazorla, Angeles; Hoffmann, Georg F.; Jeltsch, Kathrin
Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p431-446, 16p
Academic Journal
Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H. C.; Bertoldi, Mariarita; McGinty, Gabrielle E.; DiBacco, Melissa L.; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; García-Cazorla, Àngels; Juliá-Palacios, Natalia; Gibson, K. Michael; Sahin, Mustafa; Pearl, Phillip L.
Journal of Neurodevelopmental Disorders; 4/24/2024, Vol. 16 Issue 1, p1-15, 15p
Academic Journal
Himmelreich, Nastassja; Bertoldi, Mariarita; Bisello, Giovanni; Anikster, Yair; Zeev, Bruria Ben; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kurian, Manju; Spaull, Robert; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Thony, Beat; Hübschmann, Oya Kuseyri; Jeltsch, Kathrin; Opladen, Thomas; Blau, Nenad
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
Tokatly Latzer, Itay; Hanson, Ellen; Bertoldi, Mariarita; García‐Cazorla, Àngeles; Tsuboyama, Melissa; MacMullin, Paul; Rotenberg, Alexander; Roullet, Jean‐Baptiste; Pearl, Phillip L.; Gibson, K Michael; Arning, Erland; DiBacco, Melissa L; Aygun, Deniz; Sachee, Daniyal; Lee, Henry H C; Papadelis, Christos; Opladen, Thomas; Jeltsch, Kathrin; Warfield, Simon; Hoffman, Carolyn
Academic Journal
Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Cesaro, Samuele; DiBacco, Melissa L.; Arning, Erland; Rotenberg, Alexander; Lee, Henry H. C.; Opladen, Thomas; Jeltsch, Kathrin; García-Cazorla, Àngels; Juliá-Palacios, Natalia; Gibson, K. Michael; Bertoldi, Mariarita; Pearl, Phillip L.
Academic Journal
Opladen, Thomas; Gleich, Florian; Kozich, Viktor; Scarpa, Maurizio; Martinelli, Diego; Schaefer, Franz; Jeltsch, Kathrin; Juliá-Palacios, Natalia; García-Cazorla, Ángels; Dionisi-Vici, Carlo; Kölker, Stefan
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