Julia Baptista
South East Genomic Laboratory Hub
53 papers found
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L1CAM variants cause two distinct imaging phenotypes on fetal MRI
Download from doi.orgStudy of Acute Liver Failure in Children Using Next Generation Sequencing Technology
UploadNucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Download from doi.orgThe contribution of X-linked coding variation to severe developmental disorders
Download from www.nature.comEvidence for 28 genetic disorders discovered by combining healthcare and research data
Download from www.nature.comExpanding the phenotypic spectrum of IFT81 : Associated ciliopathy syndrome
Download from api.wiley.comDLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
UploadExpanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Download from doi.orgNAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses
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