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Last Updated: 10/31/2025

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Found 1233 publications

Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.

Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.

Journal: Journal of child neurology
Published: October 15, 2025

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Journal: Journal of clinical research in pediatric endocrinology
Published: September 25, 2025

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Journal: bioRxiv : the preprint server for biology
Published: September 02, 2025

Safe Airway Management in a Pediatric Case of PTEN Hamartoma Tumor Syndrome With Multiple Pharyngeal and Laryngeal Polyps: A Case Report.

Safe Airway Management in a Pediatric Case of PTEN Hamartoma Tumor Syndrome With Multiple Pharyngeal and Laryngeal Polyps: A Case Report.

Journal: Cureus
Published: August 31, 2025

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.

Journal: Annals of the Child Neurology Society
Published: August 26, 2025

A De Novo 13q21.33-q31.1 Interstitial Deletion in a Child With Megalocornea and Neurodevelopmental Delay: A Clinico-Genomic Correlation.

A De Novo 13q21.33-q31.1 Interstitial Deletion in a Child With Megalocornea and Neurodevelopmental Delay: A Clinico-Genomic Correlation.

Journal: Cureus
Published: August 20, 2025

Persistent cortical excitatory neuron dysregulation in adult Chd8 haploinsufficient mice.

Persistent cortical excitatory neuron dysregulation in adult Chd8 haploinsufficient mice.

Journal: Research square
Published: August 13, 2025

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

Journal: bioRxiv : the preprint server for biology
Published: August 08, 2025

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

Journal: bioRxiv : the preprint server for biology
Published: August 08, 2025

NF1-specific growth charts for head circumference over the first three years of life.

NF1-specific growth charts for head circumference over the first three years of life.

Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

Journal: Archivos argentinos de pediatria
Published: July 15, 2025

Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.

Anesthesiologist's Concerns About Dandy-Walker Syndrome: Airway Management, Muscle Relaxants, and Train-of-Four Monitoring of Neuromuscular Blockade.

Journal: Journal of medical cases
Published: July 15, 2025
Showing 1-12 of 1,233

Last Updated: 10/31/2025