Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
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
Select a paper to view details