Hasil Pencarian - Joy D Cogan

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  1. 1
    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases oleh Bryce A. Schuler, Erica T. Nelson, Mary Koziura, Joy D. Cogan, Rizwan Hamid, John A. Phillips III

    Diterbitkan 2022-04-01
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  2. 2
    Low-grade albuminuria in pulmonary arterial hypertension

    Low-grade albuminuria in pulmonary arterial hypertension oleh Nils P. Nickel, Vinicio A. de Jesus Perez, Roham T. Zamanian, Joshua P. Fessel, Joy D. Cogan, Rizwam Hamid, James D. West, Mark P. de Caestecker, Haichun Yang, Eric D. Austin

    Diterbitkan 2019-06-01
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  3. 3
    Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

    Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. oleh Jonathan K Alder, Joy D Cogan, Andrew F Brown, Collin J Anderson, William E Lawson, Peter M Lansdorp, John A Phillips, James E Loyd, Julian J-L Chen, Mary Armanios

    Diterbitkan 2011-03-01
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  4. 4
    Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

    Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... oleh Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

    Diterbitkan 2024-12-01
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  5. 5
    Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

    Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants oleh Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, John A. Capra

    Diterbitkan 2022-10-01
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