Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene von Abdalla, Asmahan T., Koedam, Marijke, Drop, Sten L.S., Boot, Annemieke M., Abdullah, Mohamed A., van der Eerden, Bram C.J.

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Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans von Zhong, Kaiyin, Zhu, Gu, Jing, Xiaoxi, Hendriks, A. Emile J., Drop, Sten L. S., Ikram, M. Arfan, Gordon, Scott, Zeng, Changqing, Uitterlinden, Andre G., Martin, Nicholas G., Liu, Fan, Kayser, Manfred

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The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome von Bergman, Jorieke E. H, de Ronde, Willem, Jongmans, Marjolijn C. J, Wolffenbuttel, Bruce H. R, Drop, Sten L. S, Hermus, Ad, Bocca, Gianni, Hoefsloot, Lies H, van Ravenswaaij-Arts, Conny M. A

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Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors von Cools, Martine, Looijenga, Leendert H. J., Wolffenbuttel, Katja P., Drop, Sten L. S.

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort von Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M, Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M, Ono, Makato, Lafferty, Antony R, Huynh, Tony, Visser, Uma, Choong, Catherine S, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I, Krausz, Csilla, van Ravenswaaij-Arts, Conny M A, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, Thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L, Sinclair, Andrew H

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Familial gigantism caused by an NSD1 mutation von van Haelst, Mieke M., Hoogeboom, Jeannette J.M., Baujat, Genevieve, Brüggenwirth, Hennie T., Van de Laar, Ingrid, Coleman, Kim, Rahman, Nazneen, Niermeijer, Martinus F., Drop, Sten L.S., Scambler, Peter J.

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Psychosocial Functioning after Discontinuation of Long-Term Growth Hormone Treatment in Girls with Turner Syndrome von van Pareren, Yvonne K., Duivenvoorden, Hugo J., Slijper, Froukje M.E., Koot, Hans M., Drop, Sten L.S., de Muinck Keizer-Schrama, Sabine M.P.F.

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A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development von White, Stefan, Hewitt, Jacqueline, Turbitt, Erin, van der Zwan, Yvonne, Hersmus, Remko, Drop, Sten, Koopman, Peter, Harley, Vincent, Cools, Martine, Looijenga, Leendert, Sinclair, Andrew

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Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty von Kremer, Hannie, Mariman, Edwin, Otten, Barto J., Moll, George W., Stoellnga, Gerard B.A., Wit, Jan Maarten, Jansen, Maarten, Drop, Sten L., Faas, Brigitte, Ropers, Hans-Hilger, Brunner, Han G.

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De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data von Los, F J, Van Hemel, J O, Jacobs, H J, Drop, S L, van Dongen, J J

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Familial gigantism caused by an NSD1 mutation von van Haelst, Mieke M., Hoogeboom, Jeannette J.M., Baujat, Genevieve, Brüggenwirth, Hennie T., Van de Laar, Ingrid, Coleman, Kim, Rahman, Nazneen, Niermeijer, Martinus F., Drop, Sten L.S., Scambler, Peter J.

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