Uirá Souto Melo
Charité - Universitätsmedizin Berlin
15 papers found
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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
Download from doi.orgA complex structural variant near SOX3 causes X-linked split-hand/foot malformation
UploadEnhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Download from doi.orgPosition effects at the FGF8 locus are associated with femoral hypoplasia
UploadHi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
UploadA fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts
Download from doi.orgA novel complex neurological phenotype due to a homozygous mutation in FDX2
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