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Neurological involvement in children with hemolytic uremic syndrome

European journal of pediatrics, 2022-02, Vol.181 (2), p.501-512

2022

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The changing pattern of adult primary glomerular disease

Nephrology, dialysis, transplantation, 2009-10, Vol.24 (10), p.3050-3054

2009

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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.35-37

2020

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AKT/mTORC2 Inhibition Activates FOXO1 Function in CLL Cells Reducing B-Cell Receptor-Mediated Survival

Clinical cancer research, 2019-03, Vol.25 (5), p.1574-1587

2019

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Response to treatment and outcomes of infantile spasms in Down syndrome

Developmental medicine and child neurology, 2022-06, Vol.64 (6), p.780-788

2022

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Reduced epithelial suppressor of cytokine signalling 1 in severe eosinophilic asthma

The European respiratory journal, 2016-09, Vol.48 (3), p.715-725

2016

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The Complement Cascade in Kidney Disease: From Sideline to Center Stage

American journal of kidney diseases, 2013-09, Vol.62 (3), p.604-614

2013

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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease

JIMD reports, 2023-03, Vol.64 (2), p.150-155

2023

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Excessive blinking and ataxia in a child with occult neuroblastoma and voltage-gated potassium channel antibodies

Pediatrics (Evanston), 2012-05, Vol.129 (5), p.e1348-e1352

2012

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Possible toxicity following embolization of congenital giant vertex hemangioma: case report

Journal of neurosurgery. Pediatrics, 2017-03, Vol.19 (3), p.296-299

2017

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Head bobbing due to succinic semialdehyde dehydrogenase deficiency

Neurology, 2010-06, Vol.74 (24), p.2025-2025

2010

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An early analysis of the cost-effectiveness of a diagnostic classifier for risk stratification of haematuria patients (DCRSHP) compared to flexible cystoscopy in the diagnosis of bladder cancer

PloS one, 2018-08, Vol.13 (8), p.e0202796-e0202796

2018

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Vasoactivity of rucaparib, a PARP-1 inhibitor, is a complex process that involves myosin light chain kinase, P2 receptors, and PARP itself

PloS one, 2015-02, Vol.10 (2), p.e0118187-e0118187

2015

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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Archives of disease in childhood, 2022-02, Vol.107 (2), p.160-165

2022

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Rapidly progressive renal failure associated with successful pharmacotherapy for obesity

Nephrology, dialysis, transplantation, 2007-02, Vol.22 (2), p.621-623

2007

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Stratifying risk of disease in haematuria patients using machine learning techniques to improve diagnostics

Frontiers in oncology, 2024-05, Vol.14, p.1401071-1401071

2024

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Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuria

Diabetes/metabolism research and reviews, 2022-09, Vol.38 (6), p.e3546-n/a

2022

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Biomarkers to assess the risk of bladder cancer in patients presenting with haematuria are gender-specific

Frontiers in oncology, 2022-09, Vol.12

2022

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Collectives of diagnostic biomarkers identify high-risk subpopulations of hematuria patients: exploiting heterogeneity in large-scale biomarker data

BMC medicine, 2013-01, Vol.11 (1), p.12-12, Article 12

2013

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Gemcitabine loaded microbubbles for targeted chemo-sonodynamic therapy of pancreatic cancer

Journal of controlled release, 2018-06, Vol.279, p.8-16

2018

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Challenging times: Delivering gene therapies and an opportunity for shared learning

British journal of clinical pharmacology, 2022-05, Vol.88 (5), p.2444-2446

2022

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Infantile onset ascending hereditary spastic paralysis

BMJ case reports, 2022-01, Vol.15 (1), p.e240941

2022

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Barium Sulphate Particles in Breast Mimicking Malignant Type Microcalcification

The breast journal, 2009-05, Vol.15 (3), p.305-306

2009

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Bovine TB controls

Veterinary record, 2014-06, Vol.174 (23), p.584-585

2014

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Neurological involvement in children with hemolytic uremic syndrome

The changing pattern of adult primary glomerular disease

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype

AKT/mTORC2 Inhibition Activates FOXO1 Function in CLL Cells Reducing B-Cell Receptor-Mediated Survival

Response to treatment and outcomes of infantile spasms in Down syndrome

Reduced epithelial suppressor of cytokine signalling 1 in severe eosinophilic asthma

The Complement Cascade in Kidney Disease: From Sideline to Center Stage

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease

Excessive blinking and ataxia in a child with occult neuroblastoma and voltage-gated potassium channel antibodies

Possible toxicity following embolization of congenital giant vertex hemangioma: case report

Head bobbing due to succinic semialdehyde dehydrogenase deficiency

An early analysis of the cost-effectiveness of a diagnostic classifier for risk stratification of haematuria patients (DCRSHP) compared to flexible cystoscopy in the diagnosis of bladder cancer

Vasoactivity of rucaparib, a PARP-1 inhibitor, is a complex process that involves myosin light chain kinase, P2 receptors, and PARP itself

Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

Rapidly progressive renal failure associated with successful pharmacotherapy for obesity

Stratifying risk of disease in haematuria patients using machine learning techniques to improve diagnostics

Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuria

Biomarkers to assess the risk of bladder cancer in patients presenting with haematuria are gender-specific

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Collectives of diagnostic biomarkers identify high-risk subpopulations of hematuria patients: exploiting heterogeneity in large-scale biomarker data

Gemcitabine loaded microbubbles for targeted chemo-sonodynamic therapy of pancreatic cancer

Challenging times: Delivering gene therapies and an opportunity for shared learning

Infantile onset ascending hereditary spastic paralysis

Barium Sulphate Particles in Breast Mimicking Malignant Type Microcalcification

Bovine TB controls

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