Molecular genetics of congenital heart disease. A problem of faulty septation

Congenital heart defects in the recurrent 2q13 deletion syndrome.

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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

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Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

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Circulation research·2026

Cell Village Captures Populational Heterogeneity of Sunitinib Cardiotoxicity.

Circulation research·2026

Endothelial Piezo1 Hyperactivity Drives Neurovascular Dysfunction in Hypertension.

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Multimodality Molecular Profiling Nominates Targetable Mechanisms in Progressive RV Dysfunction.

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RUNX3-ERG Cooperation Orchestrates Endothelial Gene Regulation and Vascular Homeostasis.

Circulation research·2026

Arterial Resident But Not Monocyte-Derived Macrophages Require Endothelial CSF1.

Circulation research·2026

Genome-wide characterisation of leaf rust resistance loci in an Eastern European barley collection.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye Disorders.

Human mutation·2026

Forensic characteristics and genetic variations of Han Chinese population in Shenzhen revealed by 23 autosomal STRs.

Frontiers in genetics·2026

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Clinical parkinsonism & related disorders·2026

Preimplantation genetic testing for KIT-associated pigmentary monogenic diseases.

Frontiers in medicine·2026

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.

Journal of clinical laboratory analysis·2026

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Molecular genetics of congenital heart disease. A problem of faulty septation

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Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Calprotectin Accelerates Pathogenic Calciprotein Particle Maturation to Promote Vascular Calcification in Chronic Kidney Disease.

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Multimodality Molecular Profiling Nominates Targetable Mechanisms in Progressive RV Dysfunction.

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Genome-wide characterisation of leaf rust resistance loci in an Eastern European barley collection.

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye Disorders.

Forensic characteristics and genetic variations of Han Chinese population in Shenzhen revealed by 23 autosomal STRs.

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Molecular genetics of congenital heart disease. A problem of faulty septation

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