Disease: Cohen syndrome
- A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report
- A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general anesthesia: a case report
- A mindfulness-oriented psycho-behavioral intervention for patients with acute coronary syndrome: A pilot study
- A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
- A Novel Variant in <em>VPS13B</em> Underlying Cohen Syndrome
- A Novel Variant in VPS13B Underlying Cohen Syndrome
- A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome
- A sleep stage estimation algorithm based on cardiorespiratory signals derived from a suprasternal pressure sensor
- Application of EULAR and European Society of Cardiology recommendations with regard to blood pressure and lipid management in antiphospholipid syndrome
- Bilateral Subluxation of Microspherophakic Lens in a Child with Cohen Syndrome
- Biomarkers in Sepsis: A Current Review of New Technologies
- Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families
- Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
- Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
- Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report
- Cohen syndrome combined with novel KRT9 gene mutation leading to epidermolytic palmoplantar keratoderma: A rare case report
- Cohen syndrome combined with psychiatric symptoms: a case report
- Cohen syndrome in two patients from China
- Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy
- Congenital Retinal Macrovessel and Cavernous Hemangioma in Cowden Syndrome - A Case Report and Review of Literature
- Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
- Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
- Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
- Effects of a program consisting of strain/counterstrain technique, phonophoresis, heat therapy, and stretching in patients with temporomandibular joint dysfunction: A pilot study
- Endothelial dysfunction in autoimmune, pulmonary, and kidney systems, and exercise tolerance following SARS-CoV-2 infection
- Exploring the pathological mechanisms underlying Cohen syndrome
- Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene
- Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene
- Hypoadrenocorticism in a Dog Following Recovery from Alpha-Amanitin Intoxication
- Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
- Laser-Based 3D Body Scanning Reveals a Higher Prevalence of Abdominal Obesity than Tape Measurements: Results from a Population-Based Sample
- Mobile Health-supported active syndrome surveillance for COVID-19 early case finding in Addis Ababa, Ethiopia: A comparative study
- Multiorgan neutrophilic inflammation in a Border Collie with "trapped" neutrophil syndrome
- Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
- Ophthalmic findings in Cohen syndrome patient without subjective ophthalmic complaints: A case report
- Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation
- Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder
- SARS-CoV-2 Infection in Unvaccinated High-Risk Pregnant Women in the Bronx, NY, USA Is Associated with Decreased Apgar Scores and Placental Villous Infarcts
- Tattoo-associated Sweet syndrome
- Teriflunomide and Time to Clinical Multiple Sclerosis in Patients With Radiologically Isolated Syndrome: The TERIS Randomized Clinical Trial
- Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy
- Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
- Unexpected Adverse Events of Immune Checkpoint Inhibitors
- Viruses - a major cause of amyloid deposition in the brain
- VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1
- Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, <em>ST3GAL5</em> Gene in a Saudi Family Causing Salt and Pepper Syndrome