Early synaptic imbalance in genetic mice models of Autistic Spectrum Disorders [PDF]
, 2008 Lucian Medrihan
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British Educational Research Journal, EarlyView.Abstract With levels of mental health difficulties among young people rising and policymakers focusing on the state's role in promoting young people's wellbeing, educational institutions have become positioned on the front line as key sites to identify and implement wellbeing interventions.
Ceri Brown +3 more
wiley +1 more source
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022 Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye +31 more
wiley +1 more source
The education experiences of young people experiencing child criminal and sexual exploitation
British Educational Research Journal, EarlyView.Abstract School exclusion forms part of the processes that can increase young people's risk of offending and involvement in exploitation and harm. However, little is known about the education experiences of young people impacted by harm, such as child sexual and criminal exploitation.
Jenny Lloyd
wiley +1 more source
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Human Mutation, Volume 43, Issue 12, Page 1979-1993, December 2022., 2022 Abstract Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts including the Simons Simplex Collection (SSC), Simons
Jeffrey K. Ng +16 more
wiley +1 more source
Meeting the Needs of Children with Autistic Spectrum Disorders in the Early Years
, 2004 Rita Jordan
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Action Research: An Exploration of a Music Therapy Student's Journey of Establishing a Therapeutic Relationship with a Child with Autistic Spectrum Disorder in Music Therapy [PDF]
, 2009 Na-Hyun Gang
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British Educational Research Journal, EarlyView.Abstract The impact of the COVID‐19 pandemic and associated lockdown measures on child and family functioning requires ongoing investigation to understand its far‐reaching effects. This study investigated the experiences of 10‐year‐old children (n = 2421) from the Growing Up in New Zealand longitudinal cohort during some of the strictest pandemic ...
Kane Meissel +9 more
wiley +1 more source
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022 Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova +11 more
wiley +1 more source
Effects of Autistic Spectrum Disorder on parental work outcomes. [PDF]
, 2009 Michael Watt
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