Search Results - DAENTL, D. L

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  1. 1
    Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

    Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening by JUANLIANG CAI, GOODMAN, Barbara K, DAENTL, Donna L, JABS, Ethylin Wang, PATEL, Ankita S, MULLIKEN, John B, VAN MALDERGEM, Lionel, HOGANSON, George E, PAZNEKAS, William A, BEN-NERIAH, Ziva, SHEFFER, Ruth, CUNNINGHAM, Michael L

    Published in Human genetics
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  2. 2
    FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

    FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing by Meyers, G A, Day, D, Goldberg, R, Daentl, D L, Przylepa, K A, Abrams, L J, Graham, Jr, J M, Feingold, M, Moeschler, J B, Rawnsley, E, Scott, A F, Jabs, E W

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  3. 3
    Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

    Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes by Johnston, Jennifer J, Walker, Robert L, Davis, Sean, Facio, Flavia, Turner, Joyce T, Bick, David P, Daentl, Donna L, Ellison, Jay W, Meltzer, Paul S, Biesecker, Leslie G

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  4. 4
    Deletion from the Long Arm of Chromosome 4 (46,XX,4q—) Associated with Congenital Anomalies

    Deletion from the Long Arm of Chromosome 4 (46,XX,4q—) Associated with Congenital Anomalies by Golbus, Mitchell S., Conte, Felix A., Daentl, Donna L.

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  5. 5
    FGFR2 exon IIIa and III c mutations in Crouzon, Jackson-Weiss, and pfeiffer syndromes : Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

    FGFR2 exon IIIa and III c mutations in Crouzon, Jackson-Weiss, and pfeiffer syndromes : Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing by MEYERS, G. A, DAY, D, SCOTT, A. F, WANG JABS, E, GOLDBERG, R, DAENTL, D. L, PRZYLEPA, K. A, ABRAMS, L. J, GRAHAM, J. M, FEINGOLD, M, MOESCHLER, J. B, RAWNSLEY, E

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