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Human Molecular Genetics|April 18, 2013
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasmMani Yahyavi, Hana Abouzeid, Ghada Gawdat, et al.Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.Epilepsia|March 15, 2006
Role of SOX2 mutations in human hippocampal malformations and epilepsySanjay M Sisodiya, Nicola K Ragge, Gianpiero L Cavalleri, et al.American Journal of Medical Genetics. Part A|October 31, 2009
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testingAdele Schneider, Sachiko Nakagawa, Rosanne Keep, et al.Human Molecular Genetics|May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.Human Molecular Genetics|May 28, 2021
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disordersLinda M Reis, Elena A Sorokina, Lubica Dudakova, et al.American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.Nature Genetics|March 9, 2004
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng, Nalin Thakker, Connie M Corcoran, et al.Pageof 5