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6
A first update on mapping the human genetic architecture of COVID-19
Rett syndrome: the complex nature of a monogenic disease
FOXG1 is responsible for the congenital variant of Rett syndrome
Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
