부산대학교 도서관

Schoenmakers, Daphne H; Asbreuk, Marije A B C; Martin, Tamara; Datema, Mareen; Beerepoot, Shanice; Inbar-Feigenberg, Michal; Groeschel, Samuel; Kehrer, Christiane; Øberg, Andreas; Sevin, Caroline; Fumagalli, Francesca; Bergner, Caroline G; Vieira, Päivi; Bley, Annette; Uusimaa, Johanna; Horn, Morten Andreas; Brožová, Klára; Stögmann, Eva; Pichler, Herbert; Lüftinger, Roswitha; Eklund, Erik A; Mochel, Fanny; Adang, Laura A; Laugwitz, Lucia; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; García-Cazorla, Ángeles; Grønborg, Sabine W; Lindemans, Caroline A; van Hasselt, Peter M; Hollak, Carla E M; de Koning, Tom J; Ram, Dipak; Dekker, Hanka; Schöls, Ludger; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I

European Journal of Paediatric Neurology. 57:72-81

Laugwitz, Lucia; Schoenmakers, Daphne H.; Adang, Laura A.; Beck-Woedl, Stefanie; Bergner, Caroline; Bernard, Geneviève; Bley, Annette; Boyer, Audrey; Calbi, Valeria; Dekker, Hanka; Eichler, Florian; Eklund, Erik; Fumagalli, Francesca; Gavazzi, Francesco; Grønborg, Sabine W.; van Hasselt, Peter; Langeveld, Mirjam; Lindemans, Caroline; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Saunier-Vivar, Elise; Schöls, Ludger; Scholz, Michael; Sevin, Caroline; Zerem, Ayelet; Wolf, Nicole I.; Groeschel, Samuel

European Journal of Paediatric Neurology. 49:141-154

Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A.B.C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; García Cazorla, Ángeles; Grønborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E.M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Sevin, Caroline; Schöls, Ludger; Zerem, Ayelet; Wolf, Nicole I.; Fumagalli, Francesca

Protein and Cell. 16(1):12-15

Schoenmakers, Daphne H.; Mochel, Fanny; Adang, Laura A.; Boelens, Jaap Jan; Calbi, Valeria; Eklund, Erik A.; Grønborg, Sabine W.; Fumagalli, Francesca; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Schöls, Ludger; Ram, Dipak; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I.

Orphanet Journal of Rare Diseases. 19(1)

Asbreuk, Marije A B C; Schoenmakers, Daphne H; Adang, Laura Ann; Beerepoot, Shanice; Bergner, Caroline; Bley, Annette; Boelens, Jaap Jan; Bugiani, Marianna; Calbi, Valeria; García-Cazorla, Àngeles; Eklund, Erik A; Fumagalli, Francesca; Grønborg, Sabine Weller; Groeschel, Samuel; Van Hasselt, Peter M; Hollak, Carla E M; Jones, Simon A; de Koning, Tom J; van Kuilenburg, André B P; Laugwitz, Lucia; Lindemans, Caroline; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Schöls, Ludger; Sevin, Caroline; Sinha, Jigyasha; Vaz, Frédéric M; Zerem, Ayelet; Wolf, Nicole I

Neurology. 105(2)

Gao, Qian; Khan, Adnan; Christensen, Mette; Zhou, Xiaomin; Lund, Allan; Grønborg, Sabine Weller; Wibrand, Flemming; Østergaard, Elsebet; Moritz, Thomas

Metabolomics. 21(4)

Videbæk, Cecilie S. ; Dunø, Morten ; Lindquist, Suzanne G. ; Larsen, Vibeke A. ; Kjær, Martin W. ; Melgaard, Lars ; Nielsen, Jørgen E. ; Grønborg, Sabine W. ; Lund, Allan M.

In Molecular Genetics and Metabolism December 2025 146(4)

Mengel, Eugen ; Patterson, Marc C. ; Da Riol, Rosalia M. ; Del Toro, Mireia ; Deodato, Federica ; Gautschi, Matthias ; Grunewald, Stephanie ; Grønborg, Sabine Weller ; Harmatz, Paul ; Hennermann, Julia B. ; Héron, Bénédicte ; Maier, Esther M. ; Roubertie, Agathe ; Santra, Saikat ; Tylki-Szymanska, Anna ; LaGorio, Lisa ; Berry-Kravis, Elizabeth ; Porter, Forbes D. ; Solomon, Beth ; Himmelstrup, Louise ; Mickle, Travis ; Guenther, Sven ; Dali, Christine í

In Molecular Genetics and Metabolism Reports June 2025 43

Mengel, Eugen ; Da Riol, Rosalia M. ; Del Toro, Mireia ; Deodato, Federica ; Gautschi, Matthias ; Grunewald, Stephanie ; Grønborg, Sabine Weller ; Harmatz, Paul ; Hennermann, Julia B. ; Héron, Bénédicte ; Maier, Esther M. ; Santra, Saikat ; Sharma, Reena ; Tylki-Szymanska, Anna ; Cording, Malene ; Himmelstrup, Louise ; Guenther, Sven ; Dali, Christine í

In Molecular Genetics and Metabolism July 2025

Videbæk, Cecilie S.; Grønborg, Sabine W.; Lund, Allan M.; Olesen, Mette L.

International Journal of Neonatal Screening. December, 2024, Vol. 10 Issue 4

Andersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet

EUROPEAN JOURNAL OF MEDICAL GENETICS; DEC 2025, 78 p105043 8p.

Videbæk, Cecilie ; Melgaard, Lars ; Lund, Allan M. ; Grønborg, Sabine Weller

In Molecular Genetics and Metabolism December 2023 140(4)

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