Search Results - McGrann, Pamela S

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  1. 1
    Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome

    Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome by Kirmani, Salman, Tebben, Peter J., Lteif, Aida N., Gordon, David, Clarke, Bart L., Hefferan, Theresa E., Yaszemski, Michael J., McGrann, Pamela S., Lindor, Noralane M., Ellison, Jay W.

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  2. 2
    A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1–q14

    A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1–q14 by Zou, Ying S., McGrann, Pamela S., Uphoff, Timothy S., Van Dyke, Daniel L.

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  3. 3
    Nonmosaic smallest duplication of 12q24.31‐qter: The first reported case

    Nonmosaic smallest duplication of 12q24.31‐qter: The first reported case by Ireland, Julie Won, Jalal, Syed M., McGrann, Pamela S., Lindor, Noralane M.

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  4. 4
    Germline TGF-b receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome

    Germline TGF-b receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome by Kirmani, Salman, Tebben, Peter J, Lteif, Aida N, Gordon, David, Clarke, Bart L, Hefferan, Theresa E, Yaszemski, Michael J, McGrann, Pamela S, Lindor, Noralane M, Ellison, Jay W

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  5. 5
    Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome

    Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome by Kirmani, Salman, Tebben, Peter J., Lteif, Aida N., Gordon, David, Clarke, Bart L., Hefferan, Theresa E., Yaszemski, Michael J., McGrann, Pamela S., Lindor, Noralane M., Ellison, Jay W.

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  6. 6
    A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14

    A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14 by Zou, Ying S., McGrann, Pamela S., Uphoff, Timothy S., Van Dyke, Daniel L.

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  7. 7
    Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

    Nonmosaic smallest duplication of 12q24.31-qter: The first reported case by Ireland, Julie Won, Jalal, Syed M., McGrann, Pamela S., Lindor, Noralane M.

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  8. 8
    SUN-LB012 Familial Partial Lipodystrophy Type 3: New Variant to the PPARG Gene Mutation

    SUN-LB012 Familial Partial Lipodystrophy Type 3: New Variant to the PPARG Gene Mutation by Mudgal, Mayuri, Reardon, Meghann, McGrann, Pamela, Niwattisaiwong, Soamsiri, Ruiz Esponda, Raul

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