title: Phenotype-genotype complexities: opening DOORS.
authors.affiliation: Epilepsy Research Centre, Melbourne Brain Centre, Austin Health, 245 Burgundy Street, Heidelberg, VIC 3084, Australia. Electronic address: s.berkovic@unimelb.edu.au.
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.affiliation: School of Paediatrics and Reproductive Health, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, Adelaide SA 5006, Australia.
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D020690:GTPase-Activating Proteins; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D038622:Internationality; D008297:Male; D008565:Membrane Proteins; D009264:Nails, Malformed / Q000235:genetics*; D009419:Nerve Tissue Proteins; D010641:Phenotype; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D002352:Carrier Proteins; D020690:GTPase-Activating Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C552551:TBC1D24 protein, human