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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Among authors: tan ec. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Chong JH, et al. Among authors: tan es, tan ec, tan wl. Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Eur J Pediatr. 2015. PMID: 25976726 Review.
Left Ventricular Non-compaction: Is It Genetic?
Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH. Ting TW, et al. Among authors: tan es, tan ec. Pediatr Cardiol. 2015 Dec;36(8):1565-72. doi: 10.1007/s00246-015-1222-5. Epub 2015 Jun 25. Pediatr Cardiol. 2015. PMID: 26108892 Review.
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Jamuar SS, et al. Among authors: tan es, tan ec, tan wl. EBioMedicine. 2016 Feb 4;5:211-6. doi: 10.1016/j.ebiom.2016.01.030. eCollection 2016 Mar. EBioMedicine. 2016. PMID: 27077130 Free PMC article.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. Izumi K, et al. Among authors: tan es, tan ec. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476655 Free PMC article.
432 results