Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 12

Results: 11
    1
    2
    3

    A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

    Published in:
    Human Genetics, 2021, v. 140, n. 12, p. 1733, doi. 10.1007/s00439-021-02380-2
    By:
    • Ullah, Farid;
    • Rauf, Waqar;
    • Khan, Kamal;
    • Khan, Sheraz;
    • Bell, Katrina M.;
    • de Oliveira, Vanessa Cristina;
    • Tariq, Muhammad;
    • Bakhshalizadeh, Shabnam;
    • Touraine, Philippe;
    • Katsanis, Nicholas;
    • Sinclair, Andrew;
    • He, Sijie;
    • Tucker, Elena J.;
    • Baig, Shahid M.;
    • Davis, Erica E.
    Publication type:
    Article
    4

    TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

    Published in:
    Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
    By:
    • Whitman, Mary C.;
    • Barry, Brenda J.;
    • Robson, Caroline D.;
    • Facio, Flavia M.;
    • Van Ryzin, Carol;
    • Chan, Wai-Man;
    • Lehky, Tanya J.;
    • Thurm, Audrey;
    • Zalewski, Christopher;
    • King, Kelly A.;
    • Brewer, Carmen;
    • Almpani, Konstantinia;
    • Lee, Janice S.;
    • Delaney, Angela;
    • FitzGibbon, Edmond J.;
    • Lee, Paul R.;
    • Toro, Camilo;
    • Paul, Scott M.;
    • Abdul-Rahman, Omar A.;
    • Webb, Bryn D.
    Publication type:
    Article
    5
    6
    7
    8

    Biallelic variants in YRDC cause a developmental disorder with progeroid features.

    Published in:
    Human Genetics, 2021, v. 140, n. 12, p. 1679, doi. 10.1007/s00439-021-02347-3
    By:
    • Schmidt, Julia;
    • Goergens, Jonas;
    • Pochechueva, Tatiana;
    • Kotter, Annika;
    • Schwenzer, Niko;
    • Sitte, Maren;
    • Werner, Gesa;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Isensee, Jörg;
    • Li, Yun;
    • Müller, Christian;
    • Leube, Barbara;
    • Reinhardt, H. Christian;
    • Hucho, Tim;
    • Salinas, Gabriela;
    • Helm, Mark;
    • Jachimowicz, Ron D.;
    • Wieczorek, Dagmar
    Publication type:
    Article
    9

    NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

    Published in:
    Human Genetics, 2021, v. 140, n. 12, p. 1665, doi. 10.1007/s00439-021-02343-7
    By:
    • Perea-Romero, I.;
    • Blanco-Kelly, F.;
    • Sanchez-Navarro, I.;
    • Lorda-Sanchez, I.;
    • Tahsin-Swafiri, S.;
    • Avila-Fernandez, A.;
    • Martin-Merida, I.;
    • Trujillo-Tiebas, M. J.;
    • Lopez-Rodriguez, R.;
    • Rodriguez de Alba, M.;
    • Iancu, I. F.;
    • Romero, R.;
    • Quinodoz, M.;
    • Hakonarson, H.;
    • Garcia-Sandova, Blanca;
    • Minguez, P.;
    • Corton, M.;
    • Rivolta, C.;
    • Ayuso, C.
    Publication type:
    Article
    10
    11