Disease: MASA syndrome
- Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study
- Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics
- Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
- Autoimmune lymphoproliferative syndrome identified through reverse phenotyping
- Body mass index and efficacy and safety of ticagrelor versus prasugrel in patients with acute coronary syndromes
- Case-Matched Comparison of Functional and Quality of Life Outcomes of Local Excision and Total Mesorectal Excision Following Chemoradiotherapy for Rectal Cancer
- Chronic kidney disease and transcatheter aortic valve implantation
- Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations
- Effectiveness of CPAP vs. Noninvasive Ventilation Based on Disease Severity in Obesity Hypoventilation Syndrome and Concomitant Severe Obstructive Sleep Apnea
- Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions
- First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia
- Genetic risk score for common obesity and anthropometry in Spanish schoolchildren
- Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis
- Human ankyrins and their contribution to disease biology: An update
- Induced knockouts provide insights into human L1 syndrome
- Inhibiting S100A8/A9 attenuates airway obstruction in a mouse model of heterotopic tracheal transplantation
- Intestinal Ewing sarcoma: An unusual presentation in the pediatric age
- L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains
- L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
- L1CAM mutations in three fetuses diagnosed by medical exome sequencing
- Long-Term Effect of Obstructive Sleep Apnea and Continuous Positive Airway Pressure Treatment on Blood Pressure in Patients with Acute Coronary Syndrome: A Clinical Trial
- Plasma exosomes in obesity hypoventilation syndrome patients drive lung cancer cell malignant properties: Effect of long-term adherent CPAP treatment
- Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene
- Proteomic profiling for prediction of recurrent cardiovascular event in patients with acute coronary syndrome and obstructive sleep apnea: A post-hoc analysis from the ISAACC study
- Respiratory Polygraphy Patterns and Risk of Recurrent Cardiovascular Events in Patients With Acute Coronary Syndrome
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- Three cases with L1 syndrome and two novel mutations in the L1CAM gene
- Triponderal mass index and markers of metabolic risk in children and adolescents with obesity
- X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant