Search Results - Dufner Almeida, Luiz G.

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    Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

    Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings by Dufner Almeida, Luiz G., Nanhoe, Santoesha, Zonta, Andrea, Hosseinzadeh, Mitra, Kom‐Gortat, Regina, Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, Daniel, Migone, Nicola, Povey, Sue, Ekong, Rosemary, Nellist, Mark

    Published in Human mutation
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  2. 2
    Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

    Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal by West, Hannah D., Nellist, Mark, Brouwer, Rutger W. W., van den Hout-van Vroonhoven, Mirjam C. G. N., de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter, Alfano, Rosa M., Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S., Northrup, Hope, Sampson, Julian R., Thomas, Laura E., van IJcken, Wilfred F. J.

    Published in Human mutation
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