Uncovering rare mutations: an unforeseen complication of routine genotyping of APOE

Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye.

Journal of clinical lipidology·2024

Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia.

Journal of internal medicine·2019

Conservative management in hypertriglyceridemia-associated pancreatitis.

Journal of internal medicine·2019

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial.

BMC neurology·2019

Characterization of the I4399M variant of apolipoprotein(a): implications for altered prothrombotic properties of lipoprotein(a).

Journal of thrombosis and haemostasis : JTH·2017

Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.

JIMD reports·2016

How to Establish a Reference Interval: A Practical Approach.

Clinical chemistry·2026

Current Evidence for Integrating Mass Spectrometry into Clinical M-Protein Assessment in Plasma Cell Dyscrasias.

Clinical chemistry·2026

Urinary Cell-Free DNA Fragmentomics Detects Multiple Urologic Cancers and May Reduce Unnecessary Prostate Biopsies.

Clinical chemistry·2026

Biomarker Discovery for PMM2-CDG Using Fractionated N-Glycomics Analysis.

Clinical chemistry·2026

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

Subpericranial and epidural abscess with skull osteomyelitis as a complication of microneedling for alopecia: A singular case report.

Surgical neurology international·2026

Tumor-to-tumor metastasis of small cell carcinoma of presumed pulmonary origin to a sphenoid ridge meningioma: A diagnostic pitfall in preoperative systemic evaluation.

Surgical neurology international·2026

[Retracted] Regulatory effect of microRNA-223-3p on breast cancer cell processes via the Hippo/Yap signaling pathway.

Oncology letters·2026

Cyphellophora adelaidensis sp. nov. isolated from a chronic elbow infection, Australia.

Journal de mycologie medicale·2026

Post-traumatic Aspergillus niger empyema in an immunocompetent military patient: a case report.

BMC infectious diseases·2026

Limited evidence of nosocomial MRSA transmission in a low-prevalence tertiary care center: a five-year genomic epidemiology study.

The Journal of hospital infection·2026

Related Experiment Videos

Uncovering rare mutations: an unforeseen complication of routine genotyping of APOE

Related Concept Videos

Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye.

Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia.

Conservative management in hypertriglyceridemia-associated pancreatitis.

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial.

Characterization of the I4399M variant of apolipoprotein(a): implications for altered prothrombotic properties of lipoprotein(a).

Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.

How to Establish a Reference Interval: A Practical Approach.

Current Evidence for Integrating Mass Spectrometry into Clinical M-Protein Assessment in Plasma Cell Dyscrasias.

Urinary Cell-Free DNA Fragmentomics Detects Multiple Urologic Cancers and May Reduce Unnecessary Prostate Biopsies.

Biomarker Discovery for PMM2-CDG Using Fractionated N-Glycomics Analysis.

Optimal Positive Control Assays for Methylation-Specific PCR.

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

Subpericranial and epidural abscess with skull osteomyelitis as a complication of microneedling for alopecia: A singular case report.

Tumor-to-tumor metastasis of small cell carcinoma of presumed pulmonary origin to a sphenoid ridge meningioma: A diagnostic pitfall in preoperative systemic evaluation.

[Retracted] Regulatory effect of microRNA-223-3p on breast cancer cell processes via the Hippo/Yap signaling pathway.

Cyphellophora adelaidensis sp. nov. isolated from a chronic elbow infection, Australia.

Post-traumatic Aspergillus niger empyema in an immunocompetent military patient: a case report.

Limited evidence of nosocomial MRSA transmission in a low-prevalence tertiary care center: a five-year genomic epidemiology study.

Related Experiment Videos

Uncovering rare mutations: an unforeseen complication of routine genotyping of APOE

Related Concept Videos

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