Search Results - Penman-Splitt, M.

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  1. 1
    Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

    Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in... by Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.

    Published in EBioMedicine
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  2. 2
    Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy

    Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy by Penman Splitt, M., Tsai, M. Y., Burn, J., Goodship, J. A.

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  3. 3
    Defects in the determination of left-right asymmetry

    Defects in the determination of left-right asymmetry by Splitt, M P, Burn, J, Goodship, J

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  4. 4
    Another case of maternal uniparental disomy chromosome 14 syndrome

    Another case of maternal uniparental disomy chromosome 14 syndrome by Splitt, Miranda Penman, Goodship, Judith A.

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