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Page 1
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
Guillemyn B, De Saffel H, Bek JW, Tapaneeyaphan P, De Clercq A, Jarayseh T, Debaenst S, Willaert A, De Rycke R, Byers PH, Rosseel T, Coucke P, Blaumeiser B, Syx D, Malfait F, Symoens S. Guillemyn B, et al. Among authors: tapaneeyaphan p. J Bone Miner Res. 2023 Nov;38(11):1718-1730. doi: 10.1002/jbmr.4914. Epub 2023 Sep 30. J Bone Miner Res. 2023. PMID: 37718532
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Pottie L, et al. Among authors: tapaneeyaphan p. Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009. Am J Hum Genet. 2021. PMID: 34861177 Free PMC article. No abstract available.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. Pottie L, et al. Among authors: tapaneeyaphan p. Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. Am J Hum Genet. 2021. PMID: 33991472 Free PMC article.
New insights on the clinical variability of FKBP10 mutations.
Essawi OH, Tapaneeyaphan P, Symoens S, Gistelinck C C, Malfait F, Eyre DR, Essawi T, Callewaert B, Coucke PJ. Essawi OH, et al. Among authors: tapaneeyaphan p. Eur J Med Genet. 2020 Sep;63(9):103980. doi: 10.1016/j.ejmg.2020.103980. Epub 2020 Jun 9. Eur J Med Genet. 2020. PMID: 32531462