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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortThe purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort
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Navigating 'the system' to find supports and services for people with developmental disability: How can research help make this a better journey?Parents navigate what can be a confusing world of early intervention services, residing in the health, disability and/or education sectors
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Cohort Profile: The New South Wales Child Development Study (NSW-CDS)-Wave 2 (child age 13 years)The New South Wales Child Development Study was established to enable a life course epidemiological approach to identifying risk and protective factors
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A structure-function analysis of interspecies antagonism by the 2-heptyl-4-alkyl-quinolone signal molecule from Pseudomonas aeruginosaHere we show that antibacterial activity of 4-hydroxy-2-heptylquinoline against Vibrionaceae is species-specific
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveThe Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children
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Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspectiveParents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience
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QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysisQuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications
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Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort studyThe associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation
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PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumoursOur findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.
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Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial diseaseWe report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease