Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Journal: Genetics in medicine open
Published: August 11, 2023
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: July 14, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Journal: European journal of human genetics : EJHG
Published: May 30, 2018
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
Journal: Clinical case reports
Published: March 08, 2018
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Journal: European journal of human genetics : EJHG
Published: October 31, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Journal: American journal of human genetics
Published: June 27, 2017
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Journal: American journal of human genetics
Published: August 14, 2014
Experience in the use of clobazam in the treatment of Lennox-Gastaut syndrome.
Journal: Therapeutic advances in neurological disorders
Published: May 03, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026