by 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
Published in Orphanet journal of rare diseases (07.02.2024)

by Amarasekera, Sumudu S C, Hock, Daniella H, Lake, Nicole J, Calvo, Sarah E, Grønborg, Sabine W, Krzesinski, Emma I, Amor, David J, Fahey, Michael C, Simons, Cas, Wibrand, Flemming, Mootha, Vamsi K, Lek, Monkol, Lunke, Sebastian, Stark, Zornitza, Østergaard, Elsebet, Christodoulou, John, Thorburn, David R, Stroud, David A, Compton, Alison G
Published in Human molecular genetics (20.07.2023)

by 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
Published in European journal of paediatric neurology (01.03.2024)

by Videbæk, Cecilie S., Grønborg, Sabine W., Lund, Allan M., Olesen, Mette L.
Published in International journal of neonatal screening (24.10.2024)