The mitochondrial genome in Wolfram syndrome

Australian Youth Self-Harm Atlas: spatial modelling and mapping of self-harm prevalence and related risk and protective factors to inform youth suicide prevention strategies.

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The efficacy of sacituzumab govitecan and trastuzumab deruxtecan on stable and active brain metastases in metastatic breast cancer patients-a multicenter real-world analysis.

ESMO open·2024

A practical evidence-based approach to management of type 2 diabetes in children and young people (CYP): UK consensus.

BMC medicine·2024

B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome.

Bone marrow transplantation·2021

Scheduling nab-paclitaxel combined with gemcitabine as first-line treatment for metastatic pancreatic adenocarcinoma.

British journal of cancer·2020

Molecular machinery providing copper bioavailability for spermatozoa along the epididymial tubule in mouse.

Biology of reproduction·2019

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

Ataxin-2 regulates the synaptonemal complex to ensure chromosome pairing during female meiosis.

Genetics·2026

Partitioning of parental histones between leading and lagging strands is modulated by DNA polymerase dosage.

Nucleic acids research·2026

How Topoisomerases Relax and Disentangle the Genome During DNA Replication.

Journal of molecular biology·2026

Ctf18-dependent localization of interstitial telomeric sequence to nuclear pore complexes prevents chromosome fragility.

Nucleic acids research·2026

Nuclear compartmentalization at the G1/S transition plays a key role in DNA replication control.

Nature communications·2026

SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia.

Animal genetics·2026

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The mitochondrial genome in Wolfram syndrome

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Australian Youth Self-Harm Atlas: spatial modelling and mapping of self-harm prevalence and related risk and protective factors to inform youth suicide prevention strategies.

The efficacy of sacituzumab govitecan and trastuzumab deruxtecan on stable and active brain metastases in metastatic breast cancer patients-a multicenter real-world analysis.

A practical evidence-based approach to management of type 2 diabetes in children and young people (CYP): UK consensus.

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