Dialysis amyloid presenting as acute arthritis

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.

medRxiv : the preprint server for health sciences·2025

MIS retromuscular repair of lateral incisional hernia: technological deliberations and short-term outcome.

Hernia : the journal of hernias and abdominal wall surgery·2022

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

BJOG : an international journal of obstetrics and gynaecology·2021

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2021

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

BJOG : an international journal of obstetrics and gynaecology·2021

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2020

Elevated Intraocular Pressure Independently Predicts Long-Term Progression to Advanced Chronic Kidney Disease: A 20-Year Longitudinal Cohort Study.

Nephron·2026

Human Organoids as Drug Development Tools for Polycystic Kidney Disease.

Nephron·2026

Sustained terminal complement inhibition on the endothelium with ravulizumab in patients with atypical Haemolytic Uremic Syndrome.

Nephron·2026

Clinical and Genetic Epidemiology of Autosomal Dominant Polycystic Kidney Disease among patients incident on first kidney replacement therapy between 1990-2023, in a major hospital in the Northwest of Portugal.

Nephron·2026

Dietary Potassium and Blood Pressure.

Nephron·2026

The Impact of High-Altitude Acclimatization on Frontal Lobe Executive Function: The Mediating Effect of Creatinine.

Nephron·2026

Determining aerosol temperatures by oxygen K-edge X-ray thermometry.

Physical chemistry chemical physics : PCCP·2026

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.

Cells·2026

APOE and genetic risk variants influence Alzheimer's disease onset in carriers of an extra copy of APP, with and without Down syndrome.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Effects of an Alkane on the Adsorption and Collapse by the Lipids of Pulmonary Surfactant.

Biophysical journal·2026

Atmospheres as Habitats.

Astrobiology·2026

Focal Vascular Photopenia as a Metabolic Signature of Pulmonary Embolism on AI-Enhanced 18F-FDG PET/CT.

Clinical nuclear medicine·2026

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Dialysis amyloid presenting as acute arthritis

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Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.

MIS retromuscular repair of lateral incisional hernia: technological deliberations and short-term outcome.

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

Elevated Intraocular Pressure Independently Predicts Long-Term Progression to Advanced Chronic Kidney Disease: A 20-Year Longitudinal Cohort Study.

Human Organoids as Drug Development Tools for Polycystic Kidney Disease.

Sustained terminal complement inhibition on the endothelium with ravulizumab in patients with atypical Haemolytic Uremic Syndrome.

Clinical and Genetic Epidemiology of Autosomal Dominant Polycystic Kidney Disease among patients incident on first kidney replacement therapy between 1990-2023, in a major hospital in the Northwest of Portugal.

Dietary Potassium and Blood Pressure.

The Impact of High-Altitude Acclimatization on Frontal Lobe Executive Function: The Mediating Effect of Creatinine.

Determining aerosol temperatures by oxygen K-edge X-ray thermometry.

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.

APOE and genetic risk variants influence Alzheimer's disease onset in carriers of an extra copy of APP, with and without Down syndrome.

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Dialysis amyloid presenting as acute arthritis

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