Associated Papers
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
Osio D et al.
American Journal of Medical Genetics. Part A, 2018
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
Moncini S et al.
Journal of Human Genetics, 2016
Effects of p35 Mutations Associated with Mental Retardation on the Cellular Function of p35-CDK5.
Takada S et al.
Plos One, 2015
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
Venturin M et al.
Neurogenetics, 2006
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