Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 7

Results: 11
    1

    Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
    By:
    • Parenti, Ilaria;
    • Lehalle, Daphné;
    • Nava, Caroline;
    • Torti, Erin;
    • Leitão, Elsa;
    • Person, Richard;
    • Mizuguchi, Takeshi;
    • Matsumoto, Naomichi;
    • Kato, Mitsuhiro;
    • Nakamura, Kazuyuki;
    • de Man, Stella A.;
    • Cope, Heidi;
    • Shashi, Vandana;
    • Friedman, Jennifer;
    • Joset, Pascal;
    • Steindl, Katharina;
    • Rauch, Anita;
    • Muffels, Irena;
    • van Hasselt, Peter M.;
    • Petit, Florence
    Publication type:
    Article
    2
    3
    4

    Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.

    Published in:
    2021
    By:
    • Lorès, Patrick;
    • Kherraf, Zine-Eddine;
    • Amiri-Yekta, Amir;
    • Whitfield, Marjorie;
    • Daneshipour, Abbas;
    • Stouvenel, Laurence;
    • Cazin, Caroline;
    • Cavarocchi, Emma;
    • Coutton, Charles;
    • Llabador, Marie-Astrid;
    • Arnoult, Christophe;
    • Thierry-Mieg, Nicolas;
    • Ferreux, Lucile;
    • Patrat, Catherine;
    • Hosseini, Seyedeh-Hanieh;
    • Mustapha, Selima Fourati Ben;
    • Zouari, Raoudha;
    • Dulioust, Emmanuel;
    • Ray, Pierre F.;
    • Touré, Aminata
    Publication type:
    Correction Notice
    5
    6

    Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
    By:
    • Li, Dong;
    • March, Michael E.;
    • Fortugno, Paola;
    • Cox, Liza L.;
    • Matsuoka, Leticia S.;
    • Monetta, Rosanna;
    • Seiler, Christoph;
    • Pyle, Louise C.;
    • Bedoukian, Emma C.;
    • Sánchez-Soler, María José;
    • Caluseriu, Oana;
    • Grand, Katheryn;
    • Tam, Allison;
    • Aycinena, Alicia R. P.;
    • Camerota, Letizia;
    • Guo, Yiran;
    • Sleiman, Patrick;
    • Callewaert, Bert;
    • Kumps, Candy;
    • Dheedene, Annelies
    Publication type:
    Article
    7
    8

    A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
    By:
    • Lorès, Patrick;
    • Kherraf, Zine-Eddine;
    • Amiri-Yekta, Amir;
    • Whitfield, Marjorie;
    • Daneshipour, Abbas;
    • Stouvenel, Laurence;
    • Cazin, Caroline;
    • Cavarocchi, Emma;
    • Coutton, Charles;
    • Llabador, Marie-Astrid;
    • Arnoult, Christophe;
    • Thierry-Mieg, Nicolas;
    • Ferreux, Lucile;
    • Patrat, Catherine;
    • Hosseini, Seyedeh-Hanieh;
    • Mustapha, Selima Fourati Ben;
    • Zouari, Raoudha;
    • Dulioust, Emmanuel;
    • Ray, Pierre F.;
    • Touré, Aminata
    Publication type:
    Article
    9

    Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
    By:
    • Järvelä, Irma;
    • Määttä, Tuomo;
    • Acharya, Anushree;
    • Leppälä, Juha;
    • Jhangiani, Shalini N.;
    • Arvio, Maria;
    • Siren, Auli;
    • Kankuri-Tammilehto, Minna;
    • Kokkonen, Hannaleena;
    • Palomäki, Maarit;
    • Varilo, Teppo;
    • Fang, Mary;
    • Hadley, Trevor D.;
    • Jolly, Angad;
    • Linnankivi, Tarja;
    • Paetau, Ritva;
    • Saarela, Anni;
    • Kälviäinen, Reetta;
    • Olme, Jan;
    • Nouel-Saied, Liz M.
    Publication type:
    Article
    10
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