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Identification of Two Distinct Mutations at the Same Nucleotide Position, Concomitantly with a Novel Polymorphism in the Vasopressin-Neurophysin II Gene (AVP-NP II) in Two Dutch Fa...

Abbes, André P, Bruggeman, Bennie, van den Akker, Erica L T, de Groot, Marco R, Franken, Anton A M, Drexhage, Valentijn R, Engel, Henk
Veröffentlicht in: Clinical Chemistry ; volume 46, issue 10, page 1699-1702 ; ISSN 0009-9147 1530-8561;
2000

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Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

van der Linde, Annelieke A. A., Schonbeck, Yvonne, van der Kamp, Hetty J., van den Akker, Erica L. T., van Albada, Mirjam E., Boelen, Anita, Finken, Martijn J. J., Hannema, Sabine E., Hoorweg-Nijman, Gera, Odink, Roelof J., Schielen, Peter C. J. I., Straetemans, Saartje, van Trotsenburg, Paul S., Claahsen-van der Grinten, Hedi L., Verkerk, Paul H.
Veröffentlicht in: van der Linde , A A A , Schonbeck , Y , van der Kamp , H J , van den Akker , E L T , van Albada , M E , Boelen , A , Finken , M J J , Hannema , S E , Hoorweg-Nijman , G , Odink , R J , Schielen , P C J I , Straetemans , S , van Trotsenburg , P S , Claahsen-van der Grinten , H L & Verkerk , P H 2019 , ' Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia ' , Archives of Disease in Childhood , vol. 104 , no. 7 , pp. 653-657 . https://doi.org/10.1136/archdischild-2018-315972;
2019

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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands:A Newborn Screening Pilot Study

Stroek, Kevin, Ruiter, An, van der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J., Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A., van den Akker, Erica L. T., van Albada, Mirjam E., Bocca, Gianni, Finken, Martijn J. J., Hannema, Sabine E., Mieke Houdijk, E. C. A., van der Kamp, Hetty J., van Tellingen, Vera, Paul van Trotsenburg, A. S., Zwaveling-Soonawala, Nitash, Bosch, Annet M., de Jonge, Robert, Heijboer, Annemieke C., Claahsen-van der Grinten, Hedi L., Boelen, Anita
Veröffentlicht in: Stroek , K , Ruiter , A , van der Linde , A , Ackermans , M , Bouva , M J , Engel , H , Jakobs , B , Kemper , E A , van den Akker , E L T , van Albada , M E , Bocca , G , Finken , M J J , Hannema , S E , Mieke Houdijk , E C A , van der Kamp , H J , van Tellingen , V , Paul van Trotsenburg , A S , Zwaveling-Soonawala , N , Bosch , A M , de Jonge , R , Heijboer , A C , Claahsen-van der Grinten , H L & Boelen , A 2021 , ' Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands : A Newborn Screening Pilot Study ' , The Journal of clinical endocrinology and metabolism , vol. 106 , no. 11 , pp. E4487-E4496 . https://doi.org/10.1210/clinem/dgab464;
2021

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Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study

Stroek, Kevin, Ruiter, An, van der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J, Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A, van den Akker, Erica L T, van Albada, Mirjam E, Bocca, Gianni, Finken, Martijn J J, Hannema, Sabine E, Houdijk, E C A Mieke, van der Kamp, Hetty J, van Tellingen, Vera, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Bosch, Annet M, de Jonge, Robert, Heijboer, Annemieke C, Claahsen-van der Grinten, Hedi L, Boelen, Anita
Veröffentlicht in: Stroek , K , Ruiter , A , van der Linde , A , Ackermans , M , Bouva , M J , Engel , H , Jakobs , B , Kemper , E A , van den Akker , E L T , van Albada , M E , Bocca , G , Finken , M J J , Hannema , S E , Houdijk , E C A M , van der Kamp , H J , van Tellingen , V , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Bosch , A M , de Jonge , R , Heijboer , A C , Claahsen-van der Grinten , H L & Boelen , A 2021 , ' Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study ' , Journal of Clinical Endocrinology and Metabolism , vol. 106 , no. 11 , pp. e4487-e4996 . https://doi.org/10.1210/clinem/dgab464;
2021