Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022

[Computed tomography lung density and small vessel quantification in pulmonary hypertension associated with progressive fibrosing interstitial lung disease (PF-ILD)].

Revue des maladies respiratoires·2022

Thoracic ultrasound accuracy for the investigation of initial neonatal respiratory distress.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2019

Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist.

Respiratory medicine and research·2019

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2018

Life-threatening hemorrhage after zygomatic bone surgery. About 2 posttraumatic cases.

Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale·2016

Optimal Positive Control Assays for Methylation-Specific PCR.

Clinical chemistry·2026

Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Clinical chemistry·2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Clinical chemistry·2026

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Clinical chemistry·2026

Risk of developing toxic anterior segment syndrome post cataract surgery in the fellow eye, after previous TASS in the first eye surgery.

European journal of ophthalmology·2026

Circadian rhythm amplification in diabetic retinopathy: a pilot study.

Sleep advances : a journal of the Sleep Research Society·2026

How to manage thyroid eye disease: recent advances - a narrative review.

Drugs in context·2026

Changes in the nonlinear and viscoelastic mechanical properties of the rat lamina cribrosa under chronic high intraocular pressure.

Frontiers in bioengineering and biotechnology·2026

Beyond the clinic: a community-embedded, multidomain framework for early detection of glaucoma.

Frontiers in public health·2026

Orbital tumor in DICER1 syndrome (embryonal tumor with multilayered rosettes) successfully treated with intraarterial chemotherapy.

American journal of ophthalmology case reports·2026

Related Experiment Videos

Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Related Concept Videos

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

[Computed tomography lung density and small vessel quantification in pulmonary hypertension associated with progressive fibrosing interstitial lung disease (PF-ILD)].

Thoracic ultrasound accuracy for the investigation of initial neonatal respiratory distress.

Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Life-threatening hemorrhage after zygomatic bone surgery. About 2 posttraumatic cases.

Optimal Positive Control Assays for Methylation-Specific PCR.

Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

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Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Risk of developing toxic anterior segment syndrome post cataract surgery in the fellow eye, after previous TASS in the first eye surgery.

Circadian rhythm amplification in diabetic retinopathy: a pilot study.

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Changes in the nonlinear and viscoelastic mechanical properties of the rat lamina cribrosa under chronic high intraocular pressure.

Beyond the clinic: a community-embedded, multidomain framework for early detection of glaucoma.

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Related Experiment Videos

Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy

Related Concept Videos

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