Last Updated: 09/26/2026
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Found 52 publications
Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.
Journal: Annals of internal medicine. Clinical cases
Published: August 19, 2026
Stroke in non-bacterial thrombotic endocarditis: a patient-level systematic review of clinical characteristics, management, and outcomes.
Journal: Frontiers in stroke
Published: June 22, 2026
Prevalence, Predictors, and Clinical Outcomes of Cervical Arterial Dissection in Patients with Spontaneous Coronary Artery Dissection: A Multicenter Retrospective Cohort Study.
Journal: Journal of clinical medicine
Published: June 03, 2026
Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.
Journal: Current cardiology reports
Published: June 02, 2026
Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report.
Journal: Neurogenetics
Published: May 30, 2026
Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management.
Journal: Annals of internal medicine. Clinical cases
Published: May 28, 2026
Congenital portosystemic shunt with extensive collateralization in an adult with recurrent episodes of hyperammonemic encephalopathy.
Journal: Angiogenesis
Published: May 03, 2026
The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.
Journal: Human mutation
Published: March 30, 2026
Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants.
Journal: Annals of internal medicine. Clinical cases
Published: February 16, 2026
Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
Journal: Annals of internal medicine. Clinical cases
Published: January 30, 2026
Pregnancy-Related Vascular Outcomes in Loeys-Dietz Syndrome: A Retrospective Cohort Study and Case Series.
Journal: Medical sciences (Basel, Switzerland)
Published: January 14, 2026
Last Updated: 09/26/2026