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Results: 1-4 |
Results: 4

Authors: Praphanphoj, V Sacksteder, KA Gould, SJ Thomas, GH Geraghty, MT
Citation: V. Praphanphoj et al., Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYSS gene, MOL GEN MET, 72(4), 2001, pp. 336-342

Authors: De Baere, E Dixon, MJ Small, KW Jabs, EW Leroy, BP Devriendt, K Gillerot, Y Mortier, G Meire, F Van Maldergem, L Courtens, W Hjalgrim, H Huang, S Liebaers, I Van Regemorter, N Touraine, P Praphanphoj, V Verloes, A Udar, N Yellore, V Chalukya, M Yelchits, S De Paepe, A Kuttenn, F Fellous, M Veitia, R Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600

Authors: Praphanphoj, V Goodman, BK Thomas, GH Niel, KM Toomes, C Dixon, MJ Geraghty, MT
Citation: V. Praphanphoj et al., Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), GENOMICS, 65(1), 2000, pp. 67-69

Authors: Praphanphoj, V Goodman, BK Thomas, GH Raymond, GV
Citation: V. Praphanphoj et al., Cryptic subtelomeric translocations in the 22q13 deletion syndrome, J MED GENET, 37(1), 2000, pp. 58-61
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