Results 251 to 260 of about 62,541 (346)

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

open access: yesClinical Genetics, EarlyView.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia   +16 more
wiley   +1 more source

Finding the ideal biomaterial for aortic valve repair with ex vivo porcine left heart simulator and finite element modeling [PDF]

open access: bronze, 2014
Hadi Toeg   +6 more
openalex   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

open access: yesCell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang   +4 more
wiley   +1 more source

Novel Fetal Phenotype for Pan‐Chung‐Bellen Syndrome Including Congenital Diaphragmatic Hernia

open access: yes
Prenatal Diagnosis, EarlyView.
Nimerta Sandhu   +4 more
wiley   +1 more source

Collagen XV preserves heart function and protects from pathological remodelling after myocardial infarction

open access: yesThe FEBS Journal, EarlyView.
The damage caused by myocardial infarction is exacerbated in the absence of collagen XV and leads to pathological remodelling and more severe left ventricle dysfunction (left panel) compared with the wild‐type littermates. These changes are accompanied by a wide‐ranging impact, including phenotypical (middle panel) and molecular (right panel) changes ...
Sanna‐Maria Karppinen   +15 more
wiley   +1 more source

Geometric ring aortic valve repair in tetralogy of Fallot: First reported case. [PDF]

open access: yesJTCVS Tech
Pocar M   +6 more
europepmc   +1 more source

Recombinant Activated Factor VIIa Combined With Tranexamic Acid Control Haemostasis in Patients With Severe Factor XI Deficiency Undergoing Urological Procedures

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Patients with severe Factor XI deficiency face unique challenges during urological procedures due to an elevated risk of bleeding, balanced against the use of tranexamic acid (TXA), which may form blood clots. Given the limitations associated with plasma‐based treatment, there have been reports of successful and safe off‐label use
Neta Sternbach   +7 more
wiley   +1 more source

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