Last Updated: 09/26/2026
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Found 18 publications
Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Ciliopathy: Usher Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Ciliopathy: Alström Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Ciliopathy: Sjögren-Larsson Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Ciliopathy: Senior-Løken Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Ciliopathy: Bardet-Biedl Syndrome.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Journal: American journal of human genetics
Published: March 03, 2023
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Journal: American journal of human genetics
Published: April 15, 2022
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Journal: Human genetics
Published: November 30, 2020
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Journal: Advances in experimental medicine and biology
Published: December 23, 2018
Ciliopathy: Usher Syndrome.
Journal: Advances in experimental medicine and biology
Published: December 23, 2018
Last Updated: 09/26/2026