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Last Updated: 01/07/2026
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Found 266 publications
Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.
Journal: CASE (Philadelphia, Pa.)
Published: October 06, 2025
Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.
Journal: Journal of applied genetics
Published: September 14, 2025
De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: September 07, 2025
Physical therapy rehabilitation of Cohen syndrome in Pakistan.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 02, 2025
Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.
Journal: Molecular cytogenetics
Published: July 21, 2025
Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: June 30, 2025
Periodontal Manifestations of Systemic Diseases.
Journal: Journal of periodontal research
Published: May 29, 2025
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
Journal: International journal of molecular sciences
Published: December 24, 2024
Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.
Journal: Journal of pediatric ophthalmology and strabismus
Published: December 02, 2024
Stairway to the Golgi: Two paths VPS13B can go by.
Journal: The Journal of cell biology
Published: November 12, 2024
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.
Journal: Pediatrics and neonatology
Published: November 04, 2024
Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.
Journal: BMC ophthalmology
Published: September 20, 2024
Last Updated: 01/07/2026