Associated Papers
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.
Radha Rama Devi A et al.
Clinical Genetics, 2021
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J et al.
Clinical Genetics, 2019
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R et al.
American Journal of Human Genetics, 2014
Select a paper to view details