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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene
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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
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Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism