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        Research

        A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

        We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication ...

        Research

        The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysis

        Mothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption ...

        Research

        QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysis

        QuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications ...

        Research

        Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiome

        This review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems ...

        Research

        Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

        The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children ...

        Research

        Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspective

        Parents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience ...

        Research

        Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort study

        The associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation ...

        Research

        Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

        There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

        Research

        Improving access to primary care for Aboriginal babies in Western Australia: Study protocol for a randomized controlled trial

        A population-based, stepped wedge, cluster randomized controlled trial of an enhanced model of early infant primary care ...

        Research

        Myositis complicating benzathine penicillin-G injection in a case of rheumatic heart disease

        A 7-year old boy developed myositis secondary to intramuscular injection of benzathine penicillin-G in the context of secondary prophylaxis for RF ...

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