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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature communications·2019

Brain and peripheral pharmacokinetics of levodopa in the cynomolgus monkey following administration of opicapone, a third generation nitrocatechol COMT inhibitor.

Neuropharmacology·2013

De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.

Molecular psychiatry·2013

Going for mainstream deammonification from bench to full scale for maximized resource efficiency.

Water science and technology : a journal of the International Association on Water Pollution Research·2013

Kidney transplantation from donors after brain or cardiac death in China--a clinical analysis of 94 cases.

Transplantation proceedings·2013

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Cryptic and Overt Acute Kidney Injury Share Biomarker Characteristics in Pediatric Acute Respiratory Distress Syndrome.

Critical care explorations·2026

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Open medicine (Warsaw, Poland)·2026

Case Report: Successful hematopoietic stem cell transplantation in pediatric pyruvate kinase deficiency: a single-center Asian case series demonstrating favorable outcomes.

Frontiers in immunology·2026

Perinatal, socioenvironmental, and neurological factors to predict motor delay in infants born preterm.

Developmental medicine and child neurology·2026

Patient-Derived iPSC-MSC Modelling Reveals Reversible GSK3-Mediated Suppression of Mesenchymal Lineage Differentiation in Legg-Calvé-Perthes Disease.

Journal of cellular and molecular medicine·2026

The Establishment of a Simplified Clinical Scoring System for Neurodevelopmental Follow-Up and Its Application in Very Preterm Infants.

Child: care, health and development·2026

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Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

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Characterizing sleep disorders in an autism-specific collection of electronic health records.

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

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Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

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