Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden

A randomised study of encorafenib, cetuximab, and FOLFIRI versus FOLFIRI with or without bevacizumab in BRAF V600E-mutant colorectal cancer: BREAKWATER Cohort 3.

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Quality-adjusted survival in patients with metastatic colorectal cancer treated with fruquintinib plus best supportive care: results from FRESCO-2.

ESMO open·2025

The management of hepatocellular carcinoma. Current expert opinion and recommendations derived from the 24th ESMO/World Congress on Gastrointestinal Cancer, Barcelona, 2022.

ESMO open·2023

Risk factors for mortality of medical causes within 30 days of electroconvulsive therapy.

Journal of affective disorders·2022

Evaluation of the ImmuView RSV Test for Rapid Detection of Respiratory Syncytial Virus in Adult Patients with Influenza-Like Symptoms.

Microbiology spectrum·2021

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

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A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

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A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

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Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Clinical genetics·2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026

KCTD1 p.Gly62Asp Variant in Scalp-Ear-Nipple Syndrome: Phenotypic and Structural Insights.

The Journal of craniofacial surgery·2026

Selective vulnerability and resilience of thalamic neuronal populations in Frontotemporal Dementia.

Research square·2026

Schizophrenia-associated polygenic liability and structural genomic risk demonstrate broadly distributed neuropsychiatric associations in the All of Us Research Program.

medRxiv : the preprint server for health sciences·2026

When to return genomic newborn screening results: health care professional perspectives.

medRxiv : the preprint server for health sciences·2026

A single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits.

bioRxiv : the preprint server for biology·2026

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Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden

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