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Research Output 2011 2019

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications

Finken, M. J. J., van der Steen, M., Smeets, C. C. J., Walenkamp, M. J. E., de Bruin, C., Hokken-Koelega, A. C. S. & Wit, J. M., 2018, In : Endocrine Reviews. 39, 6, p. 851-894

Research output: Contribution to journalArticleAcademicpeer-review

Copy number variants in patients with short stature

van Duyvenvoorde, H. A., Lui, J. C., Kant, S. G., Oostdijk, W., Gijsbers, A. C. J., Hoffer, M. J. V., Karperien, M., Walenkamp, M. J. E., Noordam, C., Voorhoeve, P. G., Mericq, V., Pereira, A. M., Claahsen-van de Grinten, H., van Gool, S. A., Breuning, M. H., Losekoot, M., Baron, J., Ruivenkamp, C. A. L. & Wit, J. M., 2014, In : European Journal of Human Genetics. 22, 5, p. 602-609

Research output: Contribution to journalArticleAcademicpeer-review

Genetische oorzaken van kleine lengte

Kant, S. G. & Walenkamp, M. J. E., 2014, In : Tijdschrift voor Kindergeneeskunde. 82, 1, p. 26-34

Research output: Contribution to journalArticleProfessional

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

Walenkamp, M. J. E., Klammt, J., Feigerlova, E., Losekoot, M., van Duyvenvoorde, H. A., Hwa, V., Pfaffle, R. & Wit, J. M., 2013, In : Hormone Research in Paediatrics. 80, 6, p. 406-412

Research output: Contribution to journalArticleAcademicpeer-review