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American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
The Journal of Clinical Investigation|November 15, 2024
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform molesMaryam Rezaei, Manqi Liang, Zeynep Yalcin, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
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