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Publications by Tatiana Tvrdik
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Targeted Gene Panel Sequencing for the Rapid Diagnosis of Acutely Ill Infants
Molecular genetics & genomic medicine
Genetics
Molecular Biology