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Last Updated: 01/07/2026

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Found 22089 publications

TAPT1 interacts with SUCO to maintain the homeostasis of newly synthesized proteins and brain development in mice.

TAPT1 interacts with SUCO to maintain the homeostasis of newly synthesized proteins and brain development in mice.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: December 11, 2025

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Journal: Journal of molecular cell biology
Published: December 10, 2025

Teaching Video NeuroImage: Tapping-Triggered Seizure Secondary to Focal Cortical Dysplasia in the Primary Somatosensory Cortex.

Teaching Video NeuroImage: Tapping-Triggered Seizure Secondary to Focal Cortical Dysplasia in the Primary Somatosensory Cortex.

Journal: Neurology
Published: December 10, 2025

Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)

Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)

Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology
Published: December 08, 2025

Prior Head Circumference Measurements in Infants With Older Subdural Hematomas: Did We Miss It?

Prior Head Circumference Measurements in Infants With Older Subdural Hematomas: Did We Miss It?

Journal: Clinical pediatrics
Published: December 08, 2025

NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis.

NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis.

Journal: Journal of molecular cell biology
Published: December 08, 2025

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

Journal: Journal of child neurology
Published: December 08, 2025

A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.

A rare case of peri-ocular congenital infiltrating lipomatosis with associated schizencephaly.

Journal: Orbit (Amsterdam, Netherlands)
Published: December 05, 2025

Kaptin-Actin Binding Protein (KPTN)-Related Disorder: A Case Report of Two Siblings Harboring a Novel KPTN Mutation.

Kaptin-Actin Binding Protein (KPTN)-Related Disorder: A Case Report of Two Siblings Harboring a Novel KPTN Mutation.

Journal: Cureus
Published: December 04, 2025

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Showing 1-12 of 22,089

Last Updated: 01/07/2026