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Journals and Conferences
Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for… (More)
A black female with abnormal skin pigmentation, similar to that seen in hypomelanosis of Ito, and triphalangeal thumbs is presented. This association has not previously been reported.
Three patients with partial trisomy for the distal one half of the short arm of chromosome 9 were studied. These patients represent a mild clinical variant of the trisomy 9p syndrome.
2146 CLINICAL CHEMISTRY, Vol. 35, No. 10, 1989 The common use of potentiometric methods of electrolyte determination in body fluids, especially in the automated mode (1-5), can involve errors caused… (More)
Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented… (More)
Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental… (More)