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Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant
UploadLeukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
Download from doi.orgFurther evaluation of differential expression of keratoconus candidate genes in human corneas
Download from doi.orgRapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Download from doi.orgSingle median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway
UploadAnswer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
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