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A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: de haan a. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population.
de Haan A, Ahmadizar F, van der Most PJ, Thio CHL, Kamali Z, Ani A, Ghanbari M, Chaker L, van Meurs J, Ikram MK, van Goor H, Bakker SJL, van der Harst P, Snieder H, Kavousi M, Pasch A, Eijgelsheim M, de Borst MH. de Haan A, et al. Among authors: de borst mh. Front Cardiovasc Med. 2022 Jan 14;8:809717. doi: 10.3389/fcvm.2021.809717. eCollection 2021. Front Cardiovasc Med. 2022. PMID: 35097025 Free PMC article.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: de borst mh. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
538 results