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Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly
Download from doi.orgCombined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
Download from www.nature.comAlu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature
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