Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Peluso, Francesca, Caraffi, Stefano G, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T, Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Grønborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Kleefstra, Tjitske, Koolen, David A, Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F, Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Novelli, Antonio, Ockeloen, Charlotte W, Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P, Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T, Goel, Amy, Taylor, Juliet M, Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan
Published in Journal of medical genetics (01.12.2023)
Published in Journal of medical genetics (01.12.2023)
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Newborn screening for adrenoleukodystrophy: International experiences and challenges
Videbæk, Cecilie, Melgaard, Lars, Lund, Allan M, Grønborg, Sabine Weller
Published in Molecular genetics and metabolism (01.12.2023)
Published in Molecular genetics and metabolism (01.12.2023)
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X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease
Mejdahl Nielsen, Malene, Petersen, Esben Thade, Fenger, Christina Dühring, Ørngreen, Mette Cathrine, Siebner, Hartwig Roman, Boer, Vincent Oltman, Považan, Michal, Lund, Allan, Grønborg, Sabine Weller, Hammer, Trine Bjørg
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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PEROXISOME BIOGENESIS DISORDERS
Weller, Sabine, Gould, Stephen J, Valle, David
Published in Annual review of genomics and human genetics (01.01.2003)
Published in Annual review of genomics and human genetics (01.01.2003)
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