Research output per year
Research output per year
Search results
-
2018
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
UK10K Consortium, 18 Oct 2018, In: JCI Insight. 3, 20, 11 p., e99631.Research output: Contribution to journal › Abstract › peer-review
Open AccessFile17 Citations (Scopus)212 Downloads (Pure) -
2017
Semantic prioritization of novel causative genomic variants
Boudellioua, I., Mahamad Razali, R. B., Kulmanov, M., Hashish, Y., Bajic, V. B., Goncalves-Serra, E., Schoenmakers, N., Gkoutos, G. V., Schofield, P. N. & Hoehndorf, R., 17 Apr 2017, In: PLoS Computational Biology. 13, 4, e1005500.Research output: Contribution to journal › Article › peer-review
Open AccessFile17 Citations (Scopus)212 Downloads (Pure) -
2013
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community
Cangul, H., Aycan, Z., Olivera-Nappa, A., Saglam, H., Schoenmakers, N. A., Boelaert, K., Cetinkaya, S., Tarim, O., Bober, E., Darendeliler, F., Bas, V., Demir, K., Aydin, B. K., Kendall, M., Cole, T., Högler, W., Chatterjee, V. K. K., Barrett, T. G. & Maher, E. R., Aug 2013, In: Clinical Endocrinology. 79, 2, p. 275-81 7 p.Research output: Contribution to journal › Article › peer-review
39 Citations (Scopus)