Increased prostacyclin biosynthesis in a patient with homocystinuria

Experimental Test of the Ratio Method for Nuclear-Reaction Analysis.

Physical review letters·2025

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Clinical genetics·2018

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Molecular genetics and metabolism·2018

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Clinical genetics·2017

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Clinical genetics·2015

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Molecular psychiatry·2015

Cranial pathologies in Noonan syndrome: clinical implications for pre-growth hormone neuroimaging.

European journal of pediatrics·2026

Safety and long-term outcomes of surgical intervention in pediatrics with necrotizing pneumonia: a retrospective cohort study.

European journal of pediatrics·2026

Pediatrics supratentorial intraventricular atypical teratoid/rhabdoid tumors: a case report and a systematic review of the literature.

European journal of pediatrics·2026

Lower pneumococcal IgG levels and respiratory hospitalisation in children with Down syndrome; an exploratory study.

European journal of pediatrics·2026

Treating through in pediatric patients: a single-center experience.

European journal of pediatrics·2026

Carbon footprint associated with neonatal intensive care unit admission of very preterm infants: A retrospective pilot study applying life cycle assessment.

European journal of pediatrics·2026

Image-Guided Percutaneous Technique for Direct Pleural Pressure Measurement in a Swine Model.

Journal of visualized experiments : JoVE·2026

Vascular and Ventricular Responses Assessed by Exercise Stress Echocardiography in Pediatric Marfan Syndrome.

CJC pediatric and congenital heart disease·2026

Predictive score for supraventricular arrhythmia after patent foramen ovale percutaneous closure.

Archives of cardiovascular diseases·2026

Complexity-Pursuit Topography Tracks Spatial-Temporal Severity Structure in Lung Ultrasound Videos.

Ultrasound in medicine & biology·2026

Pulse Oximetry and Arterial Blood Gas Agreement in an Outpatient Black Lung Clinic: Implications for Clinical Assessment and Decision Making.

Journal of primary care & community health·2026

Hypertension screening via awake-sleep differences in photoplethysmogram signals.

European heart journal. Digital health·2026

Related Experiment Videos

Increased prostacyclin biosynthesis in a patient with homocystinuria

Related Concept Videos

Experimental Test of the Ratio Method for Nuclear-Reaction Analysis.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

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Pediatrics supratentorial intraventricular atypical teratoid/rhabdoid tumors: a case report and a systematic review of the literature.

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Increased prostacyclin biosynthesis in a patient with homocystinuria

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