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Showing results for "Neuromuscular disorders "

Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: A systematic analysis for the Global Burden of Disease Study 2010

Reliable and timely information on the leading causes of death in populations, and how these are changing, is a crucial input into health policy deba…

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, deve…

Declining transition rates to psychotic disorder in "ultra-high risk" clients: Investigation of a dilution effect

Later ultra-high risk psychosis cohorts presented with different clinical intake characteristics than earlier cohorts

A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder

While early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variabili…

Oral and written communication skills of adolescents with prenatal alcohol exposure (PAE) compared with those with no/low PAE: A systematic review

Prenatal alcohol exposure (PAE) is associated with growth deficits and neurodevelopmental impairment including foetal alcohol spectrum disorder (FASD…

Reduction of Charged Glycoconjugates in Tango2 KO Mouse Brain

The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2-deficiency disord…

Graphomotor skills in children with prenatal alcohol exposure and fetal alcohol spectrum disorder: A population-based study in remote Australia

Few studies have examined graphomotor skills in children with prenatal alcohol exposure (PAE) or fetal alcohol spectrum disorder (FASD)

Reduced goal-directed action control in autism spectrum disorder

Investigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these sy…

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.