Courtney Kiss
Kingston, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Journal: Frontiers in genetics
Published: June 30, 2022
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Journal: American journal of medical genetics. Part A
Published: August 13, 2021
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Journal: Brain : a journal of neurology
Published: August 05, 2021
Missense variant contribution to USP9X-female syndrome.
Journal: NPJ genomic medicine
Published: August 07, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Journal: American journal of human genetics
Published: February 13, 2020
Correction: The landscape of epilepsy-related GATOR1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 29, 2018
Correction to: The landscape of epilepsy-related GATOR1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2018
The landscape of epilepsy-related GATOR1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 01, 2018
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Journal: American journal of human genetics
Published: August 16, 2016
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature.
Journal: Case reports in pediatrics
Published: June 30, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026