Associated Papers
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
Abarca-Barriga HH et al.
Genes, 2023
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC et al.
Human Genetics, 2020
32193685 (PubMed )
Supplement: 439_2020_2138_MOESM1_ESM.pdf
Cohesin complex-associated holoprosencephaly.
Kruszka P et al.
Brain : a Journal of Neurology, 2019
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