Results 171 to 180 of about 2,298,025 (383)
Amaurosis fugax due to pleomorphic sarcoma in the left atrium
Sheila Pabon +2 more
openalex +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat +2 more
wiley +1 more source
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro +4 more
wiley +1 more source
Epithelioid Hemangioendothelioma Involving the Left Apical Lung, Lingula and Right Atrium
Georges El Hasbani, Richard Assaker
openalex +1 more source
Fistula between aorta and left atrium due to bacterial endocarditis. [PDF]
Alan Ebringer +2 more
openalex +1 more source
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Bilateral superior vena cava with right superior vena cava draining into left atrium
Mohammed Hussien Alghamdi +3 more
openalex +1 more source

