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Last Updated: 10/31/2025

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Found 264 publications

Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.

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

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 02, 2025

Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene

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.

Periodontal Manifestations of Systemic Diseases.

Journal: Journal of periodontal research
Published: May 29, 2025

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

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.

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.

Stairway to the Golgi: Two paths VPS13B can go by.

Journal: The Journal of cell biology
Published: November 12, 2024

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Journal: BMC ophthalmology
Published: September 20, 2024

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Journal: Frontiers in neuroscience
Published: August 29, 2024

Cohen Syndrome With Complex Medical Complications: A Case Report.

Cohen Syndrome With Complex Medical Complications: A Case Report.

Journal: Cureus
Published: August 02, 2024

Syndromic retinitis pigmentosa.

Syndromic retinitis pigmentosa.

Journal: Progress in retinal and eye research
Published: July 17, 2024

Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.

Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.

Journal: Immunologic research
Published: May 29, 2024
Showing 1-12 of 264

Last Updated: 10/31/2025