Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 6

Results: 14
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    Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 693, doi. 10.1111/cge.13533
    By:
    • Pagnamenta, Alistair T.;
    • Kaisaki, Pamela J.;
    • Bennett, Fenella;
    • Burkitt‐Wright, Emma;
    • Martin, Hilary C.;
    • Ferla, Matteo P.;
    • Taylor, John M.;
    • Gompertz, Lianne;
    • Lahiri, Nayana;
    • Tatton‐Brown, Katrina;
    • Newbury‐Ecob, Ruth;
    • Henderson, Alex;
    • Joss, Shelagh;
    • Weber, Astrid;
    • Carmichael, Jenny;
    • Turnpenny, Peter D.;
    • McKee, Shane;
    • Forzano, Francesca;
    • Ashraf, Tazeen;
    • Bradbury, Kimberley
    Publication type:
    Article
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    Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
    By:
    • Beheshtian, Maryam;
    • Fattahi, Zohreh;
    • Fadaee, Mahsa;
    • Vazehan, Raheleh;
    • Jamali, Payman;
    • Parsimehr, Elham;
    • Kamgar, Mahboubeh;
    • Zonooz, Mehrshid Faraji;
    • Mahdavi, Shokouh Sadat;
    • Kalhor, Zahra;
    • Arzhangi, Sanaz;
    • Abedini, Seyedeh Sedigheh;
    • Kermani, Farahnaz Sabbagh;
    • Mojahedi, Faezeh;
    • Kalscheuer, Vera M.;
    • Ropers, Hans‐Hilger.;
    • Kariminejad, Ariana;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia
    Publication type:
    Article
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    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504
    By:
    • Tenorio, Jair;
    • Alarcón, Pablo;
    • Arias, Pedro;
    • Ramos, Feliciano J.;
    • Campistol, Jaume;
    • Climent, Salvador;
    • García‐Miñaur, Sixto;
    • Dapía, Irene;
    • Hernández, Alicia;
    • Nevado, Julián;
    • Solís, Mario;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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