Search Results - Parthasarathy, Padmini

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  1. 1
    ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls

    ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls by Biggs, Harry, Parthasarathy, Padmini, Gavryushkina, Alexandra, Gardner, Paul P

    Published 2020
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  2. 2
    Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia

    Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia by Wade, Emma M., Parthasarathy, Padmini, Mi, Jingyi, Morgan, Tim, Wollnik, Bernd, Robertson, Stephen P., Cundy, Tim

    Published 2021
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  3. 3
    Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

    Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome by Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.

    Published 2021
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  4. 4
    Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

    Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis by Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J., Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J. M., Markie, David, Robertson, Stephen P., Wade, Emma M.

    Published 2020
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  5. 5
    Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

    Published 2021
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