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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
Download from www.researchgate.netIdentification of CANT1 Mutations in Desbuquois Dysplasia
Download from www.ncbi.nlm.nih.govFourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Download from www.researchgate.netMapping of 5q35 chromosomal rearrangements within a genomically unstable region
Download from www.researchgate.netDelineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
Download from www.researchgate.netRecurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Download from www.ncbi.nlm.nih.govCzech dysplasia metatarsal type: Another type II collagen disorder
Download from www.nature.comMissing publications? Search for publications with a matching author name.