Search Results - DAENTL, Donna

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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
    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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  3. 3
    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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  4. 4
    Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

    Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations by SZIGETI, Kinga, WISZNIEWSKI, Wojciech, DAENTL, Donna, BROPHY, Peter J, LUPSKI, James R, SAIFI, Gulam Mustafa, SHERMAN, Diane L, SULE, Norbert, ADESINA, Adekunle M, MANCIAS, Pedro, PAPASOZOMENOS, Sozos Ch, MILLER, Geoffrey, KEPPEN, Laura

    Published in Neurogenetics
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  5. 5
    EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

    EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy by BOERKOEL, Cornelius F, TAKASHIMA, Hiroshi, BACINO, Carlos A, DAENTL, Donna, LUPSKI, James R

    Published in Neurogenetics
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  6. 6
    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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  7. 7
    Hyaline cartilage changes in diastrophic dwarfism

    Hyaline cartilage changes in diastrophic dwarfism by Scheck, Max, Parker, Jan, Daentl, Donna

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