https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:29133 Wed 07 Jul 2021 12:14:12 AEST ]]> Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:574 Thu 25 Jul 2013 09:10:29 AEST ]]> A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:44086 Thu 06 Oct 2022 15:34:32 AEDT ]]>