Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Management and prognosis of skewer foreign body ingestion in dogs: A comparative study of 114 cases following emesis, endoscopic retrieval or surgical removal.

Australian veterinary journal·2025

Canine meningitis and meningoencephalitis in eastern Australia.

Australian veterinary journal·2025

Influence of routine follow-up radiographs on recommendations for management of antebrachial fractures in dogs.

Australian veterinary journal·2025

The effect of lyophilised oral faecal microbial transplantation on functional outcomes in dogs with diabetes mellitus.

The Journal of small animal practice·2025

Effects of age on accuracy of advanced imaging modalities in identifying intervertebral disc extrusions in Dachshunds.

Australian veterinary journal·2024

Efficacy of dupilumab in real-life settings: a STROBE study.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·2024

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation·2026

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Human mutation·2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

Human mutation·2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation·2026

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Frontiers in medicine·2026

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

International urology and nephrology·2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

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Management and prognosis of skewer foreign body ingestion in dogs: A comparative study of 114 cases following emesis, endoscopic retrieval or surgical removal.

Canine meningitis and meningoencephalitis in eastern Australia.

Influence of routine follow-up radiographs on recommendations for management of antebrachial fractures in dogs.

The effect of lyophilised oral faecal microbial transplantation on functional outcomes in dogs with diabetes mellitus.

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TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

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Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

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Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

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