Refreshing results…
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadEnhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
Download from rupress.orgIQSEC2 disorder: a new disease entity or a Rett spectrum continuum?
Download from onlinelibrary.wiley.comMutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Download from hdl.handle.netNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
Download from www.nature.comBATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
Download from www.nature.comRecurrent duplications of 17q12 associated with variable phenotypes
Download from www.researchgate.netThe Genetics of Soft Connective Tissue Disorders
Download from doi.orgRedefining the MED13L syndrome
Download from www.nature.comMissing publications? Search for publications with a matching author name.