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Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study

Doornbos, Marianne E., Maas, Saskia M., McDonnell, Joseph, Vermeiden, Jan P.W., Hennekam, Raoul C.M.
2007

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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

Vos, Niels, Kleinendorst, Lotte, van der Laan, Liselot, van Uhm, Jorrit, Jansen, Philip R., van Eeghen, Agnies M., Maas, Saskia M., Mannens, Marcel M. A. M., van Haelst, Mieke M.
Veröffentlicht in: Vos , N , Kleinendorst , L , van der Laan , L , van Uhm , J , Jansen , P R , van Eeghen , A M , Maas , S M , Mannens , M M A M & van Haelst , M M 2024 , ' Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01601-2;
2024

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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes:from clinical manifestations towards personalized treatment options

Vos, Niels, Kleinendorst, Lotte, van der Laan, Liselot, van Uhm, Jorrit, Jansen, Philip R, van Eeghen, Agnies M, Maas, Saskia M, Mannens, Marcel M A M, van Haelst, Mieke M
Veröffentlicht in: Vos , N , Kleinendorst , L , van der Laan , L , van Uhm , J , Jansen , P R , van Eeghen , A M , Maas , S M , Mannens , M M A M & van Haelst , M M 2024 , ' Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes : from clinical manifestations towards personalized treatment options ' , European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-024-01601-2;
2024

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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 3, page 308-314 ; ISSN 1018-4813 1476-5438;
2016