Associated Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Ben-Salem S et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S et al.
Journal of Medical Genetics, 2011
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