Michael Hildebrand
University of Melbourne
103 papers found
Refreshing results…
Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features
UploadDevelopment of a rapid functional assay that predicts GLUT1 disease severity
Download from doi.orgCharacterization of speech and language phenotype in children with NRXN1 deletions
Download from api.wiley.comSplice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
Download from www.nature.comSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
Download from doi.orgSensitive quantitative detection of somatic mosaic mutation in “double cortex” syndrome
Download from doi.orgGain-of-functionHCN2variants in genetic epilepsy
Download from api.wiley.comGenetic epilepsy with febrile seizures plus
UploadReal-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
UploadUltra-rare genetic variation in common epilepsies: a case-control sequencing study
Download from spiral.imperial.ac.ukFrequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum
Download from api.wiley.comIs FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
UploadEarly neuroimaging markers of FOXP2 intragenic deletion
Download from www.nature.comDiagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
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