Research output per year
Research output per year
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Dive into the research topics where Serwet Demirdas is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients
van de Peppel, I. P., Demirdas, S. & Özcan, B., 7 Jun 2023, In: Frontiers in Endocrinology. 14, 1205862.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J. L., Betti, M. J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M. E., Coleman, T. F., & 64 others, 2 Feb 2023, In: American Journal of Human Genetics. 110, 2, p. 215-227 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
Coenen-van der Spek, J., Relator, R., Kerkhof, J., McConkey, H., Levy, M. A., Tedder, M. L., Louie, R. J., Fletcher, R. S., Moore, H. W., Childers, A., Farrelly, E. R., Champaigne, N. L., Lyons, M. J., Everman, D. B., Rogers, R. C., Skinner, S. A., Renck, A., Matalon, D. R., Dills, S. K., Monteleone, B., & 9 others, Jan 2023, In: Genetics in Medicine. 25, 1, p. 63-75 13 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures
van Velsen, E. F. S., Demirdas, S., Hanff, D. & Zillikens, M. C., Aug 2023, In: JBMR Plus. 7, 8, e10755.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients
Zhou, W., van Rooij, J. G. J., van de Laarschot, D. M., Zervou, Z., Bruggenwirth, H., Appelman-Dijkstra, N. M., Ebeling, P. R., Demirdas, S., Verkerk, A. J. M. H. & Zillikens, M. C., Jun 2023, In: Journal of Bone and Mineral Research. 38, 6, p. 896-906 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure)