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

Get full text

Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans by 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

Get full text

The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome by 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

Get full text

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

Get full text

Familial gigantism caused by an NSD1 mutation by 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.

Get full text

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

Get full text

Familial gigantism caused by an NSD1 mutation by 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.

Get full text