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A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31
Download from www.ncbi.nlm.nih.govMolecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
Download from www.jci.orgDetermination of enzyme activities for prenatal diagnosis of respiratory chain deficiency
Download from www.researchgate.netSHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
Download from www.researchgate.netEpiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
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