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Results: 1-3 |
Results: 3
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
Authors: Katsanis, N Ansley, SJ Badano, JL Eichers, ER Lewis, RA Hoskins, BE Scambler, PJ Davidson, WS Beales, PL Lupski, JR
Citation: N. Katsanis et al., Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder, SCIENCE, 293(5538), 2001, pp. 2256-2259
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type IA duplication diagnosis
Authors: Badano, JL Inoue, K Katsanis, N Lupski, JR
Citation: Jl. Badano et al., New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type IA duplication diagnosis, CLIN CHEM, 47(5), 2001, pp. 838-843
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
Authors: Wu, YQ Badano, JL McCaskill, C Vogel, H Potocki, L Shaffer, LG
Citation: Yq. Wu et al., Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome, AM J HU GEN, 67(5), 2000, pp. 1327-1332
Risultati: 1-3 |