Associated Papers
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
Tucker EJ et al.
European Journal of Human Genetics : Ejhg, 2018
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A et al.
Human Mutation, 2005
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