Arama Sonuçları - Douglas, Ganka V.

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  1. 1
    Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

    Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis Yazar: Douglas, Ganka V, Wiszniewska, Joanna, Lipson, Mark H, Witt, David R, McDowell, Taryn, Sifry-Platt, Mara, Hirano, Michio, Craigen, William J, Wong, Lee-Jun C

    Baskı/Yayın Bilgisi 2011
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  2. 2
    Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

    Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans Yazar: Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

    Baskı/Yayın Bilgisi 2016
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  3. 3
    Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

    Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Yazar: Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

    Baskı/Yayın Bilgisi 2016
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