Nonsense mutants and the genetic code. A small piece of molecular genetics

Successful thrombolytic treatment of neonatal arterial thromboses.

Hamostaseologie·2014

The patient with dyspnea. Rational diagnostic evaluation.

Herz·2014

Peripartum cardiomyopathy. An update.

Minerva ginecologica·2012

Remodelling and adverse remodelling in CAD.

Herz·2012

The structure of the nervous system of the nematode Caenorhabditis elegans.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences·2012

Dynamic CpG-DNA methylation of Il10 and Il19 in CD4+ T lymphocytes and macrophages: effects on tissue-specific gene expression.

Klinische Padiatrie·2011

Pulmonary Vein Isolation Using Pulsed Field Ablation With vs Without Posterior Wall Isolation in Patients With Symptomatic Persistent Atrial Fibrillation: The PIFPAF-PFA Randomized Clinical Trial.

JAMA·2026

LDL Cholesterol Lowering With Evolocumab Before Percutaneous Coronary Intervention for Acute Myocardial Infarction: The AMUNDSEN Randomized Clinical Trial.

JAMA·2026

Electrocardiogram-Based Deep Learning to Prioritize Testing for Transthyretin Amyloid Cardiomyopathy.

JAMA·2026

Cardiovascular Magnetic Resonance to Guide Defibrillator Implantation for LVEF of 36% to 50%: The CMR GUIDE Randomized Clinical Trial.

JAMA·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

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Nonsense mutants and the genetic code. A small piece of molecular genetics

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Successful thrombolytic treatment of neonatal arterial thromboses.

The patient with dyspnea. Rational diagnostic evaluation.

Peripartum cardiomyopathy. An update.

Remodelling and adverse remodelling in CAD.

The structure of the nervous system of the nematode Caenorhabditis elegans.

Dynamic CpG-DNA methylation of Il10 and Il19 in CD4+ T lymphocytes and macrophages: effects on tissue-specific gene expression.

Pulmonary Vein Isolation Using Pulsed Field Ablation With vs Without Posterior Wall Isolation in Patients With Symptomatic Persistent Atrial Fibrillation: The PIFPAF-PFA Randomized Clinical Trial.

LDL Cholesterol Lowering With Evolocumab Before Percutaneous Coronary Intervention for Acute Myocardial Infarction: The AMUNDSEN Randomized Clinical Trial.

Electrocardiogram-Based Deep Learning to Prioritize Testing for Transthyretin Amyloid Cardiomyopathy.

Cardiovascular Magnetic Resonance to Guide Defibrillator Implantation for LVEF of 36% to 50%: The CMR GUIDE Randomized Clinical Trial.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

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Nonsense mutants and the genetic code. A small piece of molecular genetics

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