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American Journal of Medical Genetics|January 2, 1996
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]D Chitayat, R Babul, M M Silver, et al.American Journal of Medical Genetics|January 2, 1996
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndromeH C Rossbach, M J Sutcliffe, M M Haag, et al.American Journal of Medical Genetics|January 2, 1996
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomasM Hansen, M J Lucarelli, D A Whiteman, et al.American Journal of Medical Genetics|January 2, 1996
Frontonasal malformation and cloacal exstrophy: a previously unreported associationN H Robin, J A Neidich, L D Bason, et al.American Journal of Medical Genetics|January 2, 1996
Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidusJ A Hoekstra, A F van Lieburg, L A Monnens, et al.American Journal of Medical Genetics|February 22, 2002
Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandomRobert D Steiner, Peter St J Dignan, Robert J Hopkin, et al.American Journal of Medical Genetics|February 22, 2002
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyReza Yaghmai, Amir H Kashani, Michael T Geraghty, et al.American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.American Journal of Medical Genetics|February 22, 2002
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp, Charles I Scott, Linda Nicholson, et al.American Journal of Medical Genetics|February 22, 2002
Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 geneLúcia Y Brown, Susan E Hodge, William G Johnson, et al.Pageof 854