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'e-Article' searched 58results | List 1~20
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Cools, M, Grijp, C, Neirinck, J, Tavernier, S J, Schelstraete, P, Van De Velde, J, Morbée, L, De Baere, E, Bonroy, C, van Bever, Y, Bruggenwirth, H, Vermont, C, Hannema, S E, De Rijke, Y, Abdulhadi-Atwan, M, Zangen, D, Verdin, H & Haerynck, F 2024, 'Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study', European Journal of Endocrinology, vol. 190, no. 1, pp. 34-43.
Electronic Resource
Rosenberg, A, Wellink, C M, Tellez Garcia, J M, Pellikaan, K, van Abswoude, D H, Davidse, K, van Zutven, L, Brüggenwirth, H, Resnick, J L, van der Lely, AJ & de Graaff, L 2022, 'Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes : Cohort Study, Meta-Analysis and Review of the Literature', Journal of Clinical Medicine, vol. 11, no. 14, 4033, pp. 49.
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Diderich, K, Romijn, K, Joosten, M, Govaerts, LCP, Polak, M, Brüggenwirth, H, Wilke, M, van Slegtenhorst, M, Bever, Y, Brooks, A, Verheijen - Mancini, G, De Graaf - van de Laar, I, Kromosoeto, J, Knapen, M, Go, A, Opstal, D, Hoefsloot, EH, Galjaard, R-J & Srebniak, G 2021, 'The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 6, pp. 1-10.
Electronic Resource
Besten, I, Jong, R, Geerts-Haages, A, Brüggenwirth, H, Koopmans, M, Brooks, A, Elgersma, Y, Festen, D, Valstar, MJ, Bindels - de Heus, G C B & Moll, H A 2021, 'Clinical aspects of a large group of adults with Angelman syndrome', American Journal of Medical Genetics, Part A, vol. 185, no. 1, pp. 168-181.
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Bever, Y, Brüggenwirth, H, Wolffenbuttel, K, Dessens, A, Groenenberg, I, Knapen, M, De Baere, E, Cools, M, van Ravenswaaij-Arts, CM, Sikkema-Raddatz, B, Grinten, H, Kempers, M, Rinne, T, Hersmus, R, Looijenga, LHJ & Hannema, S 2020, 'Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development', Journal of Medical Genetics, vol. 57, no. 9, pp. 581-589.
Electronic Resource
Geerts-Haages, A, Bossuyt, SNV, den Besten, I, Brüggenwirth, H, van der Burgt, I, Yntema, HG, Punt, M, Brooks, A, Elgersma, Y, Distel, B & Valstar, M J 2020, 'A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1481.
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[AR] Bruggenwirth, Hennie
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