Canlyniadau Chwilio - Traberg, Rasa

  • Dangos 1 - 4 canlyniadau o 4
Mireinio'r Canlyniadau
  1. 1
    Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

    Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified gan Rokaitė, Rūta, Traberg, Rasa, Dženkaitis, Mindaugas, Kučinskienė, Rūta, Labanauskas, Liutauras

    Cyhoeddwyd 2020
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  2. 2
    A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

    A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene gan Cappato, Serena, Traberg, Rasa, Gintautiene, Jolita, Zara, Federico, Bocciardi, Renata

    Cyhoeddwyd 2021
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  3. 3
    Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

    Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders gan Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

    Cyhoeddwyd 2020
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  4. 4
    High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

    High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses gan Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre

    Cyhoeddwyd 2021
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

Offerynnau Chwilio: