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American Journal of Medical Genetics|November 1, 1984
Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9L Y Shih, L Suslak, I Rosin, et al.Obstetrics and Gynecology|November 1, 1991
Crouzon syndrome: prenatal ultrasound diagnosis by binocular diametersM V Leo, L Suslak, V L Ganesh, et al.American Journal of Medical Genetics|June 15, 1991
Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindredsB A Pletcher, J S Friedes, W R Breg, et al.Human Molecular Genetics|December 10, 1999
NF1 microdeletion breakpoints are clustered at flanking repetitive sequencesM O Dorschner, V P Sybert, M Weaver, et al.American Journal of Medical Genetics|October 26, 1999
Filippi syndrome: report of three additional casesM S Williams, J L Williams, D S Wargowski, et al.Obstetrics and Gynecology|November 1, 1991
Intrauterine cytomegalovirus infection presenting as fetal meconium peritonitisB A Pletcher, M K Williams, R A Mulivor, et al.Journal of Inherited Metabolic Disease|August 1, 1997
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)D S Rosenblatt, A L Aspler, M I Shevell, et al.Journal of Medical Genetics|September 1, 1993
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosomeW P Robinson, J Wagstaff, F Bernasconi, et al.American Journal of Human Genetics|March 1, 1994
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophyL M Brzustowicz, B A Allitto, D Matseoane, et al.American Journal of Medical Genetics|December 11, 1996
Four sibs with arterial tortuosity: description and review of the literatureB A Pletcher, J E Fox, R A Boxer, et al.Pageof 3