Publications

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Author Title [ Year(Desc)]
Filters: Author is Karolak, Justyna A and Keyword is Pedigree  [Clear All Filters]
2016
Karolak, J. A. et al. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet 25, 73-78 (2016).
2019
Karolak, J. A. et al. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet 104, 213-228 (2019).