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Research

Genotype and phenotype spectrum of NRAS germline variants

Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS

Research

Autism Spectrum Disorder, Language Disorder, and Social (Pragmatic) Communication Disorder: Overlaps, Distinguishing Features, and Clinical Implications

Strictly defined cases of social (pragmatic) communication disorder and specific language impairment can be distinguished from autism spectrum disorder

Research

Diagnostic evaluation for autism spectrum disorder: A survey of health professionals in Australia

Reported practice of some professionals in Australia may not be consistent with international best practice guidelines for ASD diagnosis

Research

Health care utilization and costs for children and adults with duchenne muscular dystrophy

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Research

House Dust Mite Allergens: New Discoveries and Relevance to the Allergic Patient

Recent findings on house dust allergens and their contribution to knowledge that will significantly impact current and future allergy treatments are appraised

Research

Effects of maltreatment and parental schizophrenia spectrum disorders on early childhood social-emotional functioning: a population record linkage study

Childhood maltreatment and history of parental SSD are associated independently with poor early childhood social-emotional functioning

Research

Evaluation of the Western Australian Register of Developmental Anomalies: Thirty-five years of surveillance

The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality

Research

Pre- and probiotics for allergy prevention: time to revisit recommendations?

We discuss how the choice of probiotic strains, timing and duration of administration can critically influence the outcome due to different effects on immune modulation and gut microbiota composition