Results 191 to 200 of about 64,543 (306)

Mortality in patients with ventricular septal defect in Sweden: a national register study. [PDF]

open access: yesOpen Heart
Lundberg P   +6 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
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

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Cryptogenic Perirolandic Brain Abscess in an Otherwise Healthy Young Man

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A previously healthy 19‐year‐old male presented with 1 day of transient right‐sided weakness, numbness, and gait disequilibrium after recent self‐limited sinonasal symptoms and minor nasal trauma with epistaxis. He was afebrile but with focal deficits, leukocytosis, and elevated C‐reactive protein.
Mazen Taman   +4 more
wiley   +1 more source

Recurrent atrial fibrillation and stroke in a young adult with congenital heart defects: A case report. [PDF]

open access: yesMedicine (Baltimore)
Altell K   +8 more
europepmc   +1 more source

Stroke From Paradoxical Embolism in a Young Patient With Sickle‐Cell Disease and High Fetal Hemoglobin: A Diagnostic Challenge

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
Acute infarcts and microvascular ischemic changes in the brain of a young patient with Sickle‐Cell Disease despite High Fetal Hemoglobin. ABSTRACT Sickle‐cell disease (SCD) is characterized by abnormal hemoglobin (Hb) polymerization, leading to erythrocyte sickling and microvascular obstruction.
Yi Hui Luo   +5 more
wiley   +1 more source

Analytical interpretation of hemodynamic data in patients with intracardiac shunts: Role of mathematical modeling. [PDF]

open access: yesInt J Cardiol Congenit Heart Dis
Ferrero P   +7 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy