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American Journal of Medical Genetics|August 1, 1992
New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sistersS G Kaler, A M Garrity, H J Stern, et al.Human Genetics|August 1, 1989
Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probeM A Cantrell, J N Bicknell, R A Pagon, et al.American Journal of Medical Genetics|December 18, 1995
Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findingsM S Cohen, C A Samango-Sprouse, H J Stern, et al.American Journal of Medical Genetics|September 15, 1992
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndromeD A Driscoll, N B Spinner, M L Budarf, et al.Journal of Medical Genetics|March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsF Petrij, H G Dauwerse, R I Blough, et al.Pageof 4