Refreshing results…
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
UploadDeciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Download from onlinelibrary.wiley.comHNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
UploadBiallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
UploadZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
UploadMissing publications? Search for publications with a matching author name.