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Clinical Genetics|March 29, 2000
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotypeC Prasad, A N Prasad, B N Chodirker, et al.
American Journal of Medical Genetics|July 27, 2001
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literatureA M Innes, A E Chudley, M H Reed, et al.
Brain : a Journal of Neurology|July 24, 2002
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersC M Greco, R J Hagerman, F Tassone, et al.
Clinical Genetics|January 8, 2003
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic featuresA J Dawson, S Putnam, J Schultz, et al.
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23A E Chudley, D C Tackels, H A Lubs, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1992
Expression of the fragile-X in the "premutated"/"non-imprinted" stateR Bilas, D Wilhelm, E Schwinger, et al.
Human Molecular Genetics|September 1, 1993
Allelic association and linkage studies in Wilson diseaseG R Thomas, E A Roberts, T O Rosales, et al.
American Journal of Medical Genetics|April 1, 1992
Collaborative prospective study of the fragile X syndrome: one-year progress reportS L Sherman, G Barbi, K Brøndum-Nielsen, et al.
The Journal of Pediatrics|October 1, 1992
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite familyJ C Haworth, F Demaugre, F A Booth, et al.
Molecular Psychiatry|March 5, 2008
Face-brain asymmetry in autism spectrum disordersP Hammond, C Forster-Gibson, A E Chudley, et al.
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