Showing 1 - 4 results of 4 for search 'Charu Deshpande', query time: 0.03s Refine Results
  1. 1
    Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

    Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. by Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing

    Published 2011-01-01
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  2. 2
    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. by Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill

    Published 2017-08-01
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  3. 3
    Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

    Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease by Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig

    Published 2022-04-01
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  4. 4
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

    Published 2017-03-01
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