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North American Journal of Medicine & Science|July 21, 2015
Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?Anne Chun-Hui Tsai, Xuezhong LiuFrontiers in Medicine|March 2, 2026
Case Report: Pediatric nephrology-expanding the genotypic spectrum of <i>COQ2</i>-related nephropathy with a novel splice site variant in CoQ10-responsive SRNSYu-Ren Huang, Abhijeet Pal, Anne Chun-Hui TsaiAmerican Journal of Medical Genetics|November 20, 2002
Teebi hypertelorism syndrome: report of a family with previously unrecognized findingsAnne Chun-Hui Tsai, Jacqualyn R Robertson, Ahmad S TeebiAmerican Journal of Medical Genetics. Part A|September 21, 2011
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinxLea Parsley, Gary Bellus, Michael Handler, et al.Current Opinion in Pediatrics|January 17, 2008
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndromePei-Wen Chiang, Sofia Aliaga, Sharon Travers, et al.American Journal of Medical Genetics. Part A|April 2, 2004
A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13Anne Chun-Hui Tsai, Tamra Gibby, Linda Beischel, et al.American Journal of Medical Genetics. Part A|June 24, 2004
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh SyndromeLeonardo Salviati, Cindy Freehauf, Sabrina Sacconi, et al.Molecular Genetics and Metabolism Reports|December 5, 2022
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learnedHsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, et al.The Journal of Craniofacial Surgery|September 22, 2010
Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridizationPeter R Baker, Anne Chun-Hui Tsai, Michelle Springer, et al.American Journal of Medical Genetics. Part A|March 11, 2006
De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literatureAnne Chun-Hui Tsai, Catherine A Fine, Michael Yang, et al.Pageof 4