Ohcanbohtosat - Douglas, Ganka V.

  • Čájehuvvo 1 - 3 / 3
Aiddostahte ozu
  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 Dahkki 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

    Almmustuhtton 2011
    Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta
    Teaksta
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki 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

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta
    Teaksta
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki 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

    Almmustuhtton 2016
    Viečča ollesdeavstta Viečča ollesdeavstta Viečča ollesdeavstta
    Teaksta
    Lasit oiddohiidda
    Furkejuvvon:

Ohcanreaiddut: