Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3

Neuropilin-1 is upregulated in the adaptive response of prostate tumors to androgen-targeted therapies and is prognostic of metastatic progression and patient mortality.

Oncogene·2017

Bimodal in vivo imaging provides early assessment of stem-cell-based photoreceptor engraftment.

Eye (London, England)·2015

Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.

Cell death and differentiation·2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.

Molecular and cellular biology·2012

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.

Experimental eye research·2008

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

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Identification of superoxide dismutase 3 as a critical factor for dermal stem cell maintenance.

Journal of dermatological science·2026

C-reactive protein-related cortical thickness changes and its association with resting-state functional connectivity alterations in major depressive disorder.

Psychiatry research. Neuroimaging·2026

Pericardial-diaphragmatic malformation with intrapericardial diaphragmatic eventration in a cat.

The Canadian veterinary journal = La revue veterinaire canadienne·2026

Endothelial Cell Heterogeneity in Carotid Plaque Calcification: An Exploratory Single-Cell Transcriptomic Study with Proteomic Support.

International journal of general medicine·2026

Understanding coronoid process morphology and O'Driscoll Type 1 and Type 2 fracture patterns through 3D fracture and heat mapping techniques.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association·2026

Improving isotope ratio precision in Raman-based isotope ratio analysis of CO2 via fiber-diameter-controlled instrumental broadening.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

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Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3

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Neuropilin-1 is upregulated in the adaptive response of prostate tumors to androgen-targeted therapies and is prognostic of metastatic progression and patient mortality.

Bimodal in vivo imaging provides early assessment of stem-cell-based photoreceptor engraftment.

Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.

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