Search Results - "Gulati, Nishtha"

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  1. 1
    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing by Zonic, Emir, Ferreira, Mariana, Pardo, Luba M., Martini, Javier, Rocha, Maria Eugenia, Aanicai, Ruxandra, Ordonez-Herrera, Natalia, Saravanakumar, Deepa, Almeida, Ligia S., Fernandes, Inês C., Gulati, Nishtha, Mannepalli, Sumanth, Hercegovac, Amela, Al-Ali, Ruslan, Pereira, Catarina, Paknia, Omid, Hladnik, Uros, Bauer, Peter, Pinto Basto, Jorge, Bertoli-Avella, Aida M.

    Published in Genetics in Medicine Open (2023)
    “…Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large…”
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    A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features

    A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features by Salah, Azza, Almannai, Mohammed, Al Ojaimi, Mode, Radefeldt, Mandy, Gulati, Nishtha, Iqbal, Maria, Alawbathani, Salem, Al‐Ali, Ruslan, Beetz, Christian, El‐Hattab, Ayman W.

    Published in Clinical genetics (01-05-2022)
    “…We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures,…”
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