Browsing by Author Munteanu, Maria Cristina

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Issue DateTitleAuthor(s)Citation
2015Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing DefectsMunns, Craig; Sillence, David; Biggin, Andrew; Fahiminiya, Somayyeh; Fassier, Francois; Glorieux, Francis H; Hinsdale, Myron E; Majewski, Jacek; Metcalf, Jordan P; Munteanu, Maria Cristina; Poudel, Nabin; Rauch, F; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects, American Journal of Human Genetics, vol.96, 6, 2015,pp 971-978