Associated Papers
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
Luzón-Toro B et al.
Bmc Medical Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
Hirschsprung's disease as a model of complex genetic etiology.
Borrego S et al.
Histology and Histopathology, 2013
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
Ruiz-Ferrer M et al.
Journal of Molecular Medicine (berlin, Germany), 2011
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