Cohen Syndrome Latest Advances

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: October 28, 2025

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

Cohen Syndrome Latest Advances

Find the Latest Research About Cohen Syndrome

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

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.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition.

De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

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

Periodontal Manifestations of Systemic Diseases.

Periodontal Manifestations of Systemic Diseases.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

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.

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

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

Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.

Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.