Search Results - Vinette, Kathy M. B

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  1. 1
    Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1

    Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1 by Barnett, Christopher P., Mencel, Justin J., Gecz, Jozef, Waters, Wendy, Kirwin, Susan M., Vinette, Kathy M. B, Uppill, Miriam, Nicholl, Jillian

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  2. 2
    A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

    A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA by Kirwin, Susan M., Vinette, Kathy M. B., Gonzalez, Iris L., Abdulwahed, Hind Al, Al‐Sannaa, Nouriya, Funanage, Vicky L.

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  3. 3
    Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

    Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome by Chapleau, Christopher A., Lane, Jane, Kirwin, Susan M., Schanen, Carolyn, Vinette, Kathy M.B., Stubbolo, Danielle, MacLeod, Patrick, Percy, Alan K.

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  4. 4
    Brain-Lung-Thyroid Disease: Clinical Features of a Kindred With a Novel Thyroid Transcription Factor 1 Mutation

    Brain-Lung-Thyroid Disease: Clinical Features of a Kindred With a Novel Thyroid Transcription Factor 1 Mutation by Ferrara, Joseph M., Adam, Octavian R., Kirwin, Susan M., Houghton, David J., Shepherd, Casey, Vinette, Kathy M. B., Litvan, Irene

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  5. 5
    Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638-1646

    Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638-1646 by Chapleau, Christopher A., Lane, Jane, Kirwin, Susan, Schanen, Carolyn, Vinette, Kathy M. B., Stubbolo, Danielle, MacLeod, Patrick, Glaze, Daniel G., Motil, Kathleen J., Neul, Jeffrey L., Skinner, Steven A., Kaufmann, Walter E., Percy, Alan K.

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  6. 6
    A homozygous double mutation in SMN 1 : a complicated genetic diagnosis of SMA

    A homozygous double mutation in SMN 1 : a complicated genetic diagnosis of SMA by Kirwin, Susan M., Vinette, Kathy M. B., Gonzalez, Iris L., Abdulwahed, Hind Al, Al‐Sannaa, Nouriya, Funanage, Vicky L.

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  7. 7
    Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1

    Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1 by Barnett, Christopher P., Mencel, Justin J., Gecz, Jozef, Waters, Wendy, Kirwin, Susan M., Vinette, Kathy M. B, Uppill, Miriam, Nicholl, Jillian

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