Search Results - "Kovar, Erin M."

The Epidemiology of Biliary Atresia: Exploring the Role of Developmental Factors on Birth Prevalence by Cavallo, Laurel, Kovar, Erin M., Aqul, Amal, McLoughlin, Lucille, Mittal, Naveen K., Rodriguez-Baez, Norberto, Shneider, Benjamin L., Zwiener, Robert J., Chambers, Tiffany M., Langlois, Peter H., Canfield, Mark A., Agopian, A.J., Lupo, Philip J., Harpavat, Sanjiv

“…To identify key epidemiologic factors relevant to fetal development that are associated with biliary atresia. This population-based registry study examined…”
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Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations by Rech, Megan E., McCarthy, John M., Chen, Chun‐An, Edmond, Jane C., Shah, Veeral S., Bosch, Daniëlle G. M., Berry, Gerard T., Williams, Linford, Madan‐Khetarpal, Suneeta, Niyazov, Dmitriy, Shaw‐Smith, Charles, Kovar, Erin M., Lupo, Philip J., Schaaf, Christian P.

“…Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and…”
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