Related by context. Frequent words. (Click for all words.) 60 Klinefelter syndrome 58 neurobiological disorder 58 autosomal recessive 57 HNPCC 56 developmental abnormalities 56 Angelman syndrome 55 mitochondrial disorders 55 neurogenetics 55 congenital disorders 55 J. Biol 54 AAT deficiency 54 Joubert syndrome 54 fatal neurodegenerative 54 NF1 54 mitochondrial dysfunction 54 chromosomal abnormalities 54 HHMI investigator 54 genetic defects 54 chromosome abnormalities 54 By Karen Pallarito 54 FTLD 54 RPE# 54 myotonic dystrophy 54 endocrine diseases 54 mutated gene 53 By Alan Mozes 53 protein misfolding 53 methylation patterns 53 muscular dystrophies 53 neuromuscular dysfunction 53 genetic abnormality 53 Immunobiology 53 By Kathleen Doheny 53 neural tube defect 53 mutated genes 53 genetic defect 53 MECP2 53 Fanconi anemia 53 inborn errors 53 Fetal alcohol 53 unknown etiology 53 Congenital heart 53 FXTAS 53 CFTR gene 53 By EJ Mundell 52 rheumatoid arthritis lupus 52 LQTS 52 By Steven Reinberg 52 thrombophilia 52 APOE gene 52 BRCA1 mutations 52 susceptibility genes 52 neurodevelopmental disorder 52 J Am Acad 52 lysosomal storage diseases 52 By Ed Edelson 52 genetic determinants 52 ambiguous genitalia 52 genetic polymorphisms 52 Fragile X Syndrome 52 McKusick Nathans Institute 52 susceptibility gene 52 FMR1 gene 51 PTEN gene 51 Duchenne muscular dystrophy DMD 51 By Wai Lang 51 juvenile idiopathic arthritis 51 MTHFR 51 Hyperthyroidism 51 sporadic ALS 51 medulloblastomas 51 Cockayne Syndrome 51 neuropsychiatric disorders 51 CRIMSON STAFF WRITER 51 genetic abnormalities 51 molecular virology immunology 51 hormonal disorders 51 primary biliary cirrhosis 51 CNVs 51 unexplained infertility 51 Neurogenetics 51 long QT syndrome 51 nonsense mutations 51 autistic traits 51 molecular mechanisms underlying 51 endocrine disorder 51 chromosomal regions 51 By Seo Jee 51 NF2 50 autosomal dominant 50 untreated sleep apnea 50 familial hypercholesterolemia 50 Fragile X syndrome 50 neurodevelopmental disorders 50 myelodysplasia 50 DiGeorge syndrome 50 FMR1 50 neuroinflammation 50 Hirschsprung disease 50 mutations 50 J Am Coll