Resultats de la cerca - Patrycja A. Krakowiak

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  1. 1
    Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

    Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency per Patrycja A. Krakowiak

    Publicat 2003
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  2. 2
    Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B

    Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B per Sandy S. Sung, Anna-Marie E. Brassington, Patrycja A. Krakowiak, John C. Carey, Lynn B. Jorde, Michael J. Bamshad

    Publicat 2003
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  3. 3
    Microsatellite diversity and the demographic history of modern humans

    Microsatellite diversity and the demographic history of modern humans per Lynn B. Jorde, Alan R. Rogers, Michael J. Bamshad, W. Scott Watkins, Patrycja A. Krakowiak, Sandy Sung, Juha Kere, Henry Harpending

    Publicat 1997
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  4. 4
    A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

    A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis per Michael K. Cooper, Christopher A. Wassif, Patrycja A. Krakowiak, Jussi Taipale, Ruoyu Gong, Richard I. Kelley, Forbes D. Porter, Philip A. Beachy

    Publicat 2003
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  5. 5
    Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

    Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes per Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt, Ann Rutherford, Frank G. Whitby, Patrycja A. Krakowiak, Lynn B. Jorde, John C. Carey, Mike Bamshad

    Publicat 2003
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  6. 6
    A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

    A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome per Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak‐Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David Viskochil, John C. Carey, Michael J. Bamshad

    Publicat 2006
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  7. 7
    Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

    Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome per Christopher A. Wassif, Pinjun Zhu, Lisa E. Kratz, Patrycja A. Krakowiak, K.P. Battaile, Forrest F. Weight, Alexander Grinberg, Robert D. Steiner, Ngozi A. Nwokoro, Richard I. Kelley, Randall R. Stewart, Forbes D. Porter

    Publicat 2001
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