Customize your search results with filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 03/06/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 292 publications
First Diagnostic Questionnaire for Assessing Patients' Social Functioning: Comprehensive DDX3X Syndrome Patient Profile.
Journal: Journal of clinical medicine
Published: November 27, 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 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
GWASs and polygenic scores inherit all the old problems of heritability estimates.
Journal: The Behavioral and brain sciences
Published: September 11, 2023
Endoscopic transaqueductal stent placement for tumor-related aqueductal compression in pediatric patients: surgical consideration, technique, and results.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: August 27, 2023
PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia.
Journal: Frontiers in cell and developmental biology
Published: August 24, 2023
Last Updated: 03/06/2025