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Research

Mucin agarose gel electrophoresis: Western blotting for high-molecularweight glycoproteins

Conventional methods to separate mucin macromolecules by electrophoresis using an agarose gel and transfer protein into nitrocellulose membrane

Research

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases

Research

Human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine for the prevention of cervical cancer and HPV-related diseases

HPV-16/18 AS04-adjuvanted vaccine reduces HPV-16/18 infection and associated cervical endpoints in women regardless of age, location, or sexual experience

Research

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

This white paper discusses the global progress in understanding novel diseases with the aim of encouraging more collaboration between international...

Research

Maternal first trimester serum levels of free-beta human chorionic gonadotrophin and male genital anomalies

First trimester maternal levels of serum free-beta hCG are not associated with hypospadias or undescended testis

Research

Barriers to Parent–Child Book Reading in Early Childhood

Parent–child book reading interventions alone are unlikely to meet needs of children and families for whom the absence of reading is psychosocial risk factor

Research

Australasian Diabetes Data Network: Building a Collaborative Resource

A national collaboration was formed to provide longitudinal collection of T1D patient characteristics and outcomes, the Australasian Diabetes Data Network

Research

Early lung surveillance of cystic fibrosis: what have we learnt?

Newborn screening (NBS) for cystic fibrosis (CF) provides an opportunity to commence management and therapeutic interventions significantly earlier