Applications of next-generation whole exome sequencing.
Department of Neurology, Institute of Psychological Medicine and Clinical Neuroscience, Cardiff University, Cardiff, UK.
Katharine E
KE
Harding
Neil P
NP
Robertson
D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D038622:Internationality; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics*; D010641:Phenotype; D011963:Receptors, GABA-A / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
D002352:Carrier Proteins; D051938:Munc18 Proteins; D011963:Receptors, GABA-A