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Last Updated: 10/31/2025
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Found 1572 publications
Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.
Journal: Veterinary pathology
Published: October 09, 2025
CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice.
Journal: Science translational medicine
Published: October 08, 2025
The Role of DNA Methylation in Alcohol-mediated Neurodevelopmental Toxicity.
Journal: Toxicology
Published: September 12, 2025
Schizencephaly in neonates and clinical importance. Cases report.
Journal: Boletin medico del Hospital Infantil de Mexico
Published: July 24, 2025
Peroxisome Dysfunction and Steatotic Liver Disease.
Journal: International journal of molecular sciences
Published: July 08, 2025
Understanding the Molecular Basis of Miller-Dieker Syndrome.
Journal: International journal of molecular sciences
Published: July 01, 2025
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.
Journal: Clinical genetics
Published: June 17, 2025
Overview and expansion of CEP85L-associated lissencephaly.
Journal: European journal of medical genetics
Published: June 02, 2025
Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.
Journal: PCN reports : psychiatry and clinical neurosciences
Published: May 29, 2025
Focal Cortical Dysplasia in an Infant With Aplasia Cutis Congenita: A Case Report.
Journal: Cureus
Published: May 26, 2025
Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.
Journal: Brain & development
Published: May 18, 2025
Last Updated: 10/31/2025