Originalkatalog | Verfügbarkeit prüfen

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer-Onnes, I, Hennekam, R C M
2006

Originalkatalog | Verfügbarkeit prüfen

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M., Henneman, L, van Haelst, M M, Sistermans, E A, Cornel, M C, Misra-Isrie, M, Mannens, M M A M, Waisfisz, Q, van Hagen, J M, Brooks, A S, Barakat, T S, Hoefsloot, E H, van Lingen, R A, Ruivenkamp, C A L, van Haeringen, A, Koene, S, Santen, G W E, Rutten, J W, de Koning, B, Stevens, S J C, van den Wijngaard, A, Sinnema, M, Stegmann, A P A, Vreeburg, M, Vervoorn, M, Andriessen, P, Kasteel, D
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023