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The Journal of Molecular Diagnostics : JMD|October 21, 2005
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6Madhuri Hegde, Maria Blazo, Belinda Chong, et al.Proceedings (Baylor University. Medical Center)|October 29, 2019
Severe aortic root dilatation in infantile Marfan syndromeRenita A Thomas, Chikamuche T Anyanwu, Maria Blazo, et al.American Journal of Perinatology|September 29, 2009
Pheochromocytoma and Von Hippel-Lindau in pregnancyNonna Kolomeyevskaya, Maria Blazo, Ignatia Van den Veyver, et al.American Journal of Medical Genetics. Part A|January 22, 2004
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancyPaolo Moretti, Maria Blazo, Leonardo Garcia, et al.American Journal of Medical Genetics. Part A|December 15, 2012
The practice of adult genetics: a 7-year experience from a single centerTanya N Eble, Sandesh C S Nagamani, Luis M Franco, et al.Molecular Genetics and Metabolism|June 4, 2011
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutationsChristian P Schaaf, Maria Blazo, Richard Alan Lewis, et al.Developmental Biology|September 24, 2013
Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defectsYang Liu, Yixin Jin, Jieli Li, et al.Molecular Genetics and Metabolism|February 22, 2008
Generalized metabolic bone disease in Neurofibromatosis type INicola Brunetti-Pierri, Stephen B Doty, John Hicks, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 15, 2013
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutationJay R Shapiro, Caressa Lietman, Monica Grover, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.Pageof 2