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Journal of Inherited Metabolic Disease|May 9, 2000
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglyceridesR B Pour, S Stöckler-Ipsiroglu, D H Hunneman, et al.
Human Molecular Genetics|November 1, 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406T Martinsson, C Bjursell, H Stibler, et al.
Human Mutation|January 1, 1995
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patientsK Will, T Dörk, M Stuhrmann, et al.
Clinical Genetics|January 23, 2009
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutationsB Söylen, K K Singh, A Abuzainin, et al.
Journal of Chromatography|July 23, 1993
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric populationG F Hoffmann, C K Seppel, B Holmes, et al.
Human Genetics|November 1, 1995
Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detectionA A el-Aleem, I Böhm, S Temtamy, et al.
Human Genetics|January 1, 1990
Cloning and sequence analysis of the human parathyroid hormone gene regionA Reis, W Hecht, R Gröger, et al.
Journal of Pediatric Hematology/Oncology|January 4, 1998
Potential prognostic value of C-erbB-2 expression in medulloblastomas in very young childrenJ W Herms, J Behnke, M Bergmann, et al.
Chemistry & Biology|December 24, 1998
Evaluating precursor-directed biosynthesis towards novel erythromycins through in vitro studies on a bimodular polyketide synthaseK J Weissman, M Bycroft, A L Cutter, et al.
Biology of Reproduction|April 18, 1998
Molecular cloning and characterization of P47, a novel boar sperm-associated zona pellucida-binding protein homologous to a family of mammalian secretory proteinsM Ensslin, T Vogel, J J Calvete, et al.
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