Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius Latest Advances

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Journal: Neurology

Published: September 26, 2025

Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.

Journal: Molecular genetics & genomic medicine

Published: May 01, 2025

First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.

Journal: Journal of clinical medicine

Published: November 27, 2024

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: August 07, 2024

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Journal: Calcified tissue international

Published: May 18, 2024

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 12, 2024

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.

Journal: Journal of clinical immunology

Published: April 05, 2024

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

Journal: Military Medical Research

Published: March 09, 2024

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Journal: International journal of molecular sciences

Published: February 23, 2024

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

Journal: The Journal of clinical investigation

Published: February 21, 2024

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

Journal: Clinical dysmorphology

Published: February 13, 2024

Advanced cerebrospinal fluid flow MRI findings of aqueductal stenosis caused by web.

Journal: Journal of clinical ultrasound : JCU

Published: September 23, 2023

Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius Latest Advances

Find the Latest Research About Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Pearls & Oy-sters: Acute Obstructive Hydrocephalus Co-Occurrence With Vigabatrin-Associated MRI Changes in an Infant With LIS1-Related Classical Lissencephaly.

Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.

Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.

First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.

First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.

Disseminated Aspergillosis in X-linked Agammaglobulinemia: Beyond the norm.

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

Advanced cerebrospinal fluid flow MRI findings of aqueductal stenosis caused by web.

Advanced cerebrospinal fluid flow MRI findings of aqueductal stenosis caused by web.