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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M. Thomas-Wilson A, et al. Among authors: blaser s. Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9. Am J Med Genet A. 2023. PMID: 37031378 Review.
Warsaw breakage syndrome: Further clinical and genetic delineation.
Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D. Alkhunaizi E, et al. Among authors: blaser si. Am J Med Genet A. 2018 Nov;176(11):2404-2418. doi: 10.1002/ajmg.a.40482. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216658 Free PMC article.
Sudden infant death in a patient with FGFR3 P250R mutation.
Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D. Shah PS, et al. Among authors: blaser s. Am J Med Genet A. 2006 Dec 15;140(24):2794-6. doi: 10.1002/ajmg.a.31517. Am J Med Genet A. 2006. PMID: 17103449
Omphalocele in Miller-Dieker syndrome: expanding the phenotype.
Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson JA, Vasjar J, Teshima I. Chitayat D, et al. Among authors: blaser s. Am J Med Genet. 1997 Mar 31;69(3):293-8. doi: 10.1002/(sici)1096-8628(19970331)69:3<293::aid-ajmg15>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9096760
Skull base development and craniosynostosis.
Blaser SI, Padfield N, Chitayat D, Forrest CR. Blaser SI, et al. Pediatr Radiol. 2015 Sep;45 Suppl 3:S485-96. doi: 10.1007/s00247-015-3320-1. Epub 2015 Sep 7. Pediatr Radiol. 2015. PMID: 26346154 Review.
393 results