Associated Papers
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2023
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S et al.
Human Mutation, 2022
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.
Baruch Y et al.
American Journal of Medical Genetics. Part A, 2021
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope H et al.
Molecular Genetics & Genomic Medicine, 2020
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