Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 10

Results: 10
    1
    2

    Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
    By:
    • Tucker, Elena J.;
    • Rius, Rocio;
    • Jaillard, Sylvie;
    • Bell, Katrina;
    • Lamont, Phillipa J.;
    • Travessa, André;
    • Dupont, Juliette;
    • Sampaio, Lurdes;
    • Dulon, Jérôme;
    • Vuillaumier-Barrot, Sandrine;
    • Whalen, Sandra;
    • Isapof, Arnaud;
    • Stojkovic, Tanya;
    • Quijano-Roy, Susana;
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn;
    • Hanna, Chloe;
    • Simpson, Andrea;
    • Ayers, Katie;
    • Thorburn, David R.
    Publication type:
    Article
    3

    A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1315, doi. 10.1007/s00439-020-02174-y
    By:
    • Walls, W. Daniel;
    • Moteki, Hideaki;
    • Thomas, Taylor R.;
    • Nishio, Shin-ya;
    • Yoshimura, Hidekane;
    • Iwasa, Yoichiro;
    • Frees, Kathy L.;
    • Nishimura, Carla J.;
    • Azaiez, Hela;
    • Booth, Kevin T.;
    • Marini, Robert J.;
    • Kolbe, Diana L.;
    • Weaver, A. Monique;
    • Schaefer, Amanda M.;
    • Wang, Kai;
    • Braun, Terry A.;
    • Usami, Shin-ichi;
    • Barr-Gillespie, Peter G.;
    • Richardson, Guy P.;
    • Smith, Richard J.
    Publication type:
    Article
    4
    5
    6

    An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
    By:
    • Shamseldin, Hanan E.;
    • Al Mogarri, Ibrahim;
    • Alqwaiee, Mansour M.;
    • Alharbi, Adel S.;
    • Baqais, Khaled;
    • AlSaadi, Muslim;
    • AlAnzi, Talal;
    • Alhashem, Amal;
    • Saghier, Afaf;
    • Ameen, Waleed;
    • Ibrahim, Niema;
    • Yang, Jason;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Chivukula, Raghu R.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
    7
    8
    9
    10

    CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1209, doi. 10.1007/s00439-020-02164-0
    By:
    • Bonet-Fernández, Juan-Manuel;
    • Aroca-Aguilar, José-Daniel;
    • Corton, Marta;
    • Ramírez, Ana-Isabel;
    • Alexandre-Moreno, Susana;
    • García-Antón, María-Teresa;
    • Salazar, Juan-José;
    • Ferre-Fernández, Jesús-José;
    • Atienzar-Aroca, Raquel;
    • Villaverde, Cristina;
    • Iancu, Ionut;
    • Tamayo, Alejandra;
    • Méndez-Hernández, Carmen-Dora;
    • Morales-Fernández, Laura;
    • Rojas, Blanca;
    • Ayuso, Carmen;
    • Coca-Prados, Miguel;
    • Martinez-de-la-Casa, José-Maria;
    • García-Feijoo, Julián;
    • Escribano, Julio
    Publication type:
    Article