Wolff-Parkinson-White (Type B), Ebstein's anomaly, and congenital ichthyosis

Discovery and hit-to-lead evaluation of piperazine amides as selective, state-dependent NaV1.7 inhibitors.

MedChemComm·2018

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

European journal of medical genetics·2017

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

European journal of medical genetics·2014

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.

Ophthalmic genetics·2010

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·2010

Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.

Endocrine-related cancer·2009

Clinical and Economic Outcomes in Diagnostic-Naïve Medicare Fee-for-Service Beneficiaries Managed with Alert-Based Ambulatory Cardiac Monitors: the CAMELOT-ALERT Study.

American heart journal·2026

Clinical outcomes associated with recurrent compared to first-time myocardial infarction.

American heart journal·2026

Age-specific coronary outcomes in subacute Kawasaki disease.

American heart journal·2026

Cardiorespiratory Fitness in Children with Surgically Corrected Congenital Heart Disease: Exercise Testing Profiles and Biventricular Function.

American heart journal·2026

High-Sensitivity HEART Pathway One-and-Done Troponin Strategy is Safe and Effective.

American heart journal·2026

Health Status Relationship to Ischemia and Coronary Artery Disease Severity in the ISCHEMIA Trial.

American heart journal·2026

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Obstetric medicine·2026

Bone and Cartilage Staining for Skeletal Preparations.

Methods in molecular biology (Clifton, N.J.)·2026

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Journal of oral microbiology·2026

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Frontiers in nutrition·2026

Heritability - A Paradox of Quantitative Genetics.

Genetics·2026

Association of Hypertension and Serum Aldosterone Levels in Male Patients with Androgenetic Alopecia: A Case-Control Study.

Journal of multidisciplinary healthcare·2026

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Wolff-Parkinson-White (Type B), Ebstein's anomaly, and congenital ichthyosis

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Discovery and hit-to-lead evaluation of piperazine amides as selective, state-dependent NaV1.7 inhibitors.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.

Clinical and Economic Outcomes in Diagnostic-Naïve Medicare Fee-for-Service Beneficiaries Managed with Alert-Based Ambulatory Cardiac Monitors: the CAMELOT-ALERT Study.

Clinical outcomes associated with recurrent compared to first-time myocardial infarction.

Age-specific coronary outcomes in subacute Kawasaki disease.

Cardiorespiratory Fitness in Children with Surgically Corrected Congenital Heart Disease: Exercise Testing Profiles and Biventricular Function.

High-Sensitivity HEART Pathway One-and-Done Troponin Strategy is Safe and Effective.

Health Status Relationship to Ischemia and Coronary Artery Disease Severity in the ISCHEMIA Trial.

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Bone and Cartilage Staining for Skeletal Preparations.

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

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Wolff-Parkinson-White (Type B), Ebstein's anomaly, and congenital ichthyosis

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