Works by Rafiullah


Results: 172
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    Sex Hormones Regulate SHANK Expression.

    Published in:
    Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00337
    By:
    • Berkel, Simone;
    • Eltokhi, Ahmed;
    • Fröhlich, Henning;
    • Porras-Gonzalez, Diana;
    • Rafiullah, Rafiullah;
    • Sprengel, Rolf;
    • Rappold, Gudrun A.
    Publication type:
    Article
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    Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
    By:
    • Al-Hamed, Mohamed H.;
    • Kurdi, Wesam;
    • Khan, Rubina;
    • Tulbah, Maha;
    • AlNemer, Maha;
    • AlSahan, Nada;
    • AlMugbel, Maisoon;
    • Rafiullah, Rafiullah;
    • Assoum, Mirna;
    • Monies, Dorota;
    • Shah, Zeeshan;
    • Rahbeeni, Zuhair;
    • Derar, Nada;
    • Hakami, Fahad;
    • Almutairi, Gawaher;
    • AlOtaibi, Afaf;
    • Ali, Wafaa;
    • AlShammasi, Amal;
    • AlMubarak, Wardah;
    • AlDawoud, Samia
    Publication type:
    Article
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    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

    Published in:
    Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6
    By:
    • Werren, Elizabeth A.;
    • Peirent, Emily R.;
    • Jantti, Henna;
    • Guxholli, Alba;
    • Srivastava, Kinshuk Raj;
    • Orenstein, Naama;
    • Narayanan, Vinodh;
    • Wiszniewski, Wojciech;
    • Dawidziuk, Mateusz;
    • Gawlinski, Pawel;
    • Umair, Muhammad;
    • Khan, Amjad;
    • Khan, Shahid Niaz;
    • Geneviève, David;
    • Lehalle, Daphné;
    • van Gassen, K. L. I.;
    • Giltay, Jacques C.;
    • Oegema, Renske;
    • van Jaarsveld, Richard H.;
    • Rafiullah, Rafiullah
    Publication type:
    Article
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