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Publications by Lefkothea Karaviti

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

American Journal of Human Genetics
Genetics
2019English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

Clinical Spectrum Associated With Recurrent Genomic Rearrangements in Chromosome 17q12

European Journal of Human Genetics
Genetics
2009English

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