Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)

Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography.

Eye (London, England)·2017

Why the macula?

Eye (London, England)·2017

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

Clinical genetics·2016

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Eye (London, England)·2015

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

Eye (London, England)·2014

Ophthalmologists' perspective.

Methods in molecular medicine·2011

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Role of Thrombectomy Technique in Alteplase Bridging Intravenous Thrombolysis for Basilar Artery Occlusion.

Journal of the American Heart Association·2026

Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review.

Birth defects research·2026

Anticoagulation Following Surgery for Glioblastoma: Case Report and Review of the Literature.

Journal of neurological surgery reports·2026

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Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)

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Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography.

Why the macula?

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

Ophthalmologists' perspective.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

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Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

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Role of Thrombectomy Technique in Alteplase Bridging Intravenous Thrombolysis for Basilar Artery Occlusion.

Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review.

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Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)

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