Other publications in European journal of medical genetics

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New...

Published in Aug 08, 2020

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Published in Aug 07, 2020

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) caus...

Published in Jun 04, 2020

Impact of direct-to-consumer genetic testing on Australian clinical genetics services.

Published in Jun 02, 2020

Multisystem presentation of a homozygous POLG2 variant.

Published in May 01, 2020