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Publications by Lorenzo D. Botto

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics
Genetics
2019English

Self-Reported Maternal Cigarette Smoke Exposure During the Periconceptional Period and the Risk for Omphalocoele

Paediatric and Perinatal Epidemiology
Child HealthPediatricsPerinatologyEpidemiology
2013English

Targeted Gene Panel Sequencing for the Rapid Diagnosis of Acutely Ill Infants

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

The Importance of Nomenclature for Congenital Cardiac Disease: Implications for Research and Evaluation

Cardiology in the Young
PediatricsCardiologyPerinatologyCardiovascular MedicineMedicineChild Health
2008English

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