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Last Updated: 01/07/2026

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Found 1262 publications

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

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

Title Not Found

Title Not Found

Journal: Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie
Published: November 19, 2025

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Journal: Cureus
Published: November 08, 2025

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: November 01, 2025

CHD8-Related Neurodevelopmental Disorder Manifesting Adult-Onset Compulsive Behaviors.

CHD8-Related Neurodevelopmental Disorder Manifesting Adult-Onset Compulsive Behaviors.

Journal: Clinical genetics
Published: October 19, 2025

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

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.

Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome.

Journal: Prenatal diagnosis
Published: October 10, 2025

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.

Journal: Journal of developmental biology
Published: October 10, 2025

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency.

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency.

Journal: Cureus
Published: October 07, 2025

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Journal: Children (Basel, Switzerland)
Published: September 25, 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
Showing 1-12 of 1,262

Last Updated: 01/07/2026