Works matching AU Robertson, P. A.

Results: 756
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    Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237
    By:
    • Pham, Duyen H.;
    • Pitman, Melissa R.;
    • Kumar, Raman;
    • Jolly, Lachlan A.;
    • Schulz, Renee;
    • Gardner, Alison E.;
    • Nys, Rebekah;
    • Heron, Sarah E.;
    • Corbett, Mark A.;
    • Kothur, Kavitha;
    • Gill, Deepak;
    • Rajagopalan, Sulekha;
    • Kolc, Kristy L.;
    • Halliday, Benjamin J.;
    • Robertson, Stephen P.;
    • Regan, Brigid M.;
    • Kirsch, Heidi E.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Pitson, Stuart M.
    Publication type:
    Article
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    Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071
    By:
    • Harms, Frederike L.;
    • Parthasarathy, Padmini;
    • Zorndt, Dennis;
    • Alawi, Malik;
    • Fuchs, Sigrid;
    • Halliday, Benjamin J.;
    • McKeown, Colina;
    • Sampaio, Hugo;
    • Radhakrishnan, Natasha;
    • Radhakrishnan, Suresh K.;
    • Gorce, Magali;
    • Navet, Benjamin;
    • Ziegler, Alban;
    • Sachdev, Rani;
    • Robertson, Stephen P.;
    • Nampoothiri, Sheela;
    • Kutsche, Kerstin
    Publication type:
    Article
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    Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

    Published in:
    Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009
    By:
    • Ballout, Rami A.;
    • Dickerson, Cheryl;
    • Wick, Myra J.;
    • Al‐Sweel, Najla;
    • Openshaw, Amanda S.;
    • Srivastava, Siddharth;
    • Swanson, Lindsay C.;
    • Bramswig, Nuria C.;
    • Kuechler, Alma;
    • Hong, Bo;
    • Fleming, Leah R.;
    • Curry, Kathryn;
    • Robertson, Stephen P.;
    • Andersen, Erica F.;
    • El‐Hattab, Ayman W.
    Publication type:
    Article
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    Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
    By:
    • Jenkins, Zandra A.;
    • Macharg, Alison;
    • Chang, Cheng‐Yee;
    • van Kogelenberg, Margriet;
    • Morgan, Tim;
    • Frentz, Sophia;
    • Wei, Wenhua;
    • Pilch, Jacek;
    • Hannibal, Mark;
    • Foulds, Nicola;
    • McGillivray, George;
    • Leventer, Richard J.;
    • García‐Miñaúr, Sixto;
    • Sugito, Stuart;
    • Nightingale, Scott;
    • Markie, David M.;
    • Dudding, Tracy;
    • Kapur, Raj P.;
    • Robertson, Stephen P.
    Publication type:
    Article
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    Mutations in two regions of FLNB result in atelosteogenesis I and III.

    Published in:
    Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
    By:
    • Farrington-Rock, Claire;
    • Firestein, Marc H.;
    • Bicknell, Louise S.;
    • Superti-Furga, Andrea;
    • Bacino, Carlos A.;
    • Cormier-Daire, Valerie;
    • Le Merrer, Martine;
    • Baumann, Clarisse;
    • Roume, Joelle;
    • Rump, Patrick;
    • Verheij, Joke B.G.M.;
    • Sweeney, Elizabeth;
    • Rimoin, David L.;
    • Lachman, Ralph S.;
    • Robertson, Stephen P.;
    • Cohn, Daniel H.;
    • Krakow, Deborah
    Publication type:
    Article
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    TYPESCRIPT FOR PUBLICATION.

    Published in:
    Notes & Queries, 1972, v. 19, n. 10, p. 384-b
    By:
    • ROBERTSON, P. N. S. HICKMAN
    Publication type:
    Article
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    Target sites of anthelmintics.

    Published in:
    Parasitology, 1997, v. 114, n. 7, p. 111, doi. 10.1017/s0031182097001029
    By:
    • MARTIN, R. J.;
    • ROBERTSON, A. P.;
    • BJORN, H.
    Publication type:
    Article
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    Biogeographical Variation in Termite Distributions Alters Global Deadwood Decay.

    Published in:
    Global Ecology & Biogeography, 2024, v. 33, n. 12, p. 1, doi. 10.1111/geb.13915
    By:
    • Law, Stephanie J.;
    • Flores‐Moreno, Habacuc;
    • Parr, Catherine L.;
    • Adu‐Bredu, Stephen;
    • Bunney, Katherine;
    • Cornwell, William K.;
    • Evouna Ondo, Fidèle;
    • Powell, Jeff R.;
    • Quansah, Gabriel W.;
    • Robertson, Mark P.;
    • Zanne, Amy E.;
    • Eggleton, Paul
    Publication type:
    Article
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