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Results: 1-7 |
Results: 7
Highly polymorphic short tandem repeat analyses clarify complex molecular test results
Authors: Lebo, RV Maher, T Farrer, L Fenerci, EY Milunsky, JM
Citation: Rv. Lebo et al., Highly polymorphic short tandem repeat analyses clarify complex molecular test results, DIAGN MOL P, 10(3), 2001, pp. 179-189
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
Authors: Lebo, RV Ikuta, T Milunsky, JM Milunsky, A
Citation: Rv. Lebo et al., Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region, CLIN GENET, 59(6), 2001, pp. 406-417
Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy
Authors: Wyandt, HE Lebo, RV Fenerci, EY Sadhu, DN Milunsky, JM
Citation: He. Wyandt et al., Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy, AM J MED G, 93(4), 2000, pp. 305-312
Rare etiology of autosomal recessive disease in a child with noncarrier parents
Authors: Lebo, RV Shapiro, LR Fenerci, EY Hoover, JM Chuang, JL Chuang, DT Kronn, DF
Citation: Rv. Lebo et al., Rare etiology of autosomal recessive disease in a child with noncarrier parents, AM J HU GEN, 67(3), 2000, pp. 750-754
Preimplantation diagnosis of the beta 1 integrin knockout mutation as a model for aneuploid gene testing
Authors: Kim, HS Klimanskaya, IV Damsky, CK Pedersen, RA Lebo, RV
Citation: Hs. Kim et al., Preimplantation diagnosis of the beta 1 integrin knockout mutation as a model for aneuploid gene testing, HUM GENET, 105(5), 1999, pp. 480-488
Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination
Authors: Lebo, RV Milunsky, J Higgins, AW Loose, B Huang, XL Wyandt, HE
Citation: Rv. Lebo et al., Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination, AM J MED G, 85(5), 1999, pp. 429-437
Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations
Authors: Hodge, SE Lebo, RV Yesley, AR Cheney, SM Angle, H Milunsky, J
Citation: Se. Hodge et al., Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations, AM J MED G, 82(4), 1999, pp. 329-335
Risultati: 1-7 |