Pitfalls in the diagnosis of mtDNA mutations

Primary ovarian insufficiency in RMND1 mitochondrial disease.

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Single-longitudinal-mode pumped pulsed-dye amplifier for high-resolution laser spectroscopy.

The Review of scientific instruments·2020

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet journal of rare diseases·2020

Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Journal of human genetics·2020

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Human reproduction open·2019

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Human reproduction (Oxford, England)·2019

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

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

Journal of medical genetics·2026

Diagnostic Accuracy and Prognostic Value of Flow Cytometry Versus PCR-Based Minimal Residual Disease Assessment in Leukemia: A Systematic Review and Meta Analysis.

Cureus·2026

Exploiting Multicomponent Reactions to Drive the Development of Novel Antitubercular Agents: An Overview.

ChemMedChem·2026

Comparison of disk diffusion, MIC test strip, and broth microdilution for susceptibility testing of carbapenem-resistant Enterobacterales with different strains and carbapenemase genotypes to aztreonam/avibactam.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2026

Caspase-2 is involved in IFN-γ primed THP-1 derived macrophages cell death through regulating caspase-8 activation.

Human immunology·2026

The Future of Fungal Diagnostics: What's next in laboratory testing for invasive fungal infection?

Medical mycology·2026

Transection of the Right Intermediate Bronchus Caused by Rhizopus arrhizus: A Case Report.

Infection and drug resistance·2026

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Pitfalls in the diagnosis of mtDNA mutations

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Primary ovarian insufficiency in RMND1 mitochondrial disease.

Single-longitudinal-mode pumped pulsed-dye amplifier for high-resolution laser spectroscopy.

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

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

Diagnostic Accuracy and Prognostic Value of Flow Cytometry Versus PCR-Based Minimal Residual Disease Assessment in Leukemia: A Systematic Review and Meta Analysis.

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Comparison of disk diffusion, MIC test strip, and broth microdilution for susceptibility testing of carbapenem-resistant Enterobacterales with different strains and carbapenemase genotypes to aztreonam/avibactam.

Caspase-2 is involved in IFN-γ primed THP-1 derived macrophages cell death through regulating caspase-8 activation.

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Pitfalls in the diagnosis of mtDNA mutations

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