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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
UploadNucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Download from doi.orgHigh efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
UploadDLG4-related synaptopathy: a new rare brain disorder
UploadExome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients
UploadNeuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
UploadNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Download from www.nature.comPhenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
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