Hasil Pencarian - Precilla D’Souza

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  1. 1
    P253: Pancraniosynostosis and macrocephaly in a four-year-old male without molecular diagnosis: Treated but unsolved

    P253: Pancraniosynostosis and macrocephaly in a four-year-old male without molecular diagnosis: Treated but unsolved oleh Yoliann Mojica Algarin, Ellen MacNamara, Precilla D'Souza, Cynthia Tifft

    Diterbitkan 2023-01-01
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  2. 2
    P315: Novel variants in the CACNA1B gene: A case presentation of neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

    P315: Novel variants in the CACNA1B gene: A case presentation of neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements oleh Zoe Wolfenson, Precilla D'Souza, Marla Sabaii, Inna Hughes, David Adams, Adam Hartman, Ellen Macnamara

    Diterbitkan 2024-01-01
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  3. 3
    P134: Neuronal pathways by differential tractography correlate with clinical outcomes following gene therapy for GM1 gangliosidosis: New biomarker for neurodegenerative diseases*

    P134: Neuronal pathways by differential tractography correlate with clinical outcomes following gene therapy for GM1 gangliosidosis: New biomarker for neurodegenerative diseases* oleh Connor Lewis, Zeynep Vardar, Anna Kuhn, Jean Johnston, Precilla D'Souza, Mohamed Shazeeb, Cynthia Tifft, Maria Acosta

    Diterbitkan 2024-01-01
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  4. 4
    P094: Clinical and MRI correlations in GM1 patients: Finding biomarkers to predict treatment response with gene therapy*

    P094: Clinical and MRI correlations in GM1 patients: Finding biomarkers to predict treatment response with gene therapy* oleh Maria T. Acosta, Zeynep Vardar, Precilla D'Souza, Jean Johnston, Anna Kuhn, Audrey Thurm, Cristan Farmer, Mohammed Shazeeb, Cynthia Tifft

    Diterbitkan 2023-01-01
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  5. 5
    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature oleh Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams

    Diterbitkan 2020-12-01
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  6. 6
    Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

    Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder oleh Benjamin J. Grosso, Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza, Michael F. Wangler, Ellen F. Macnamara, Ulises Meza, Roger A. Bannister

    Diterbitkan 2022-06-01
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  7. 7
    Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

    Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients oleh Christopher Zoppo, Josephine Kolstad, Jean Johnston, Precilla D'Souza, Anna Luisa Kühn, Zeynep Vardar, Ahmet Peker, Clifford Lindsay, Zubir S. Rentiya, Robert King, Heather Gray-Edwards, Behroze Vachha, Behroze Vachha, Maria T. Acosta, Cynthia J. Tifft, Mohammed Salman Shazeeb

    Diterbitkan 2024-09-01
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  8. 8
    The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

    The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects oleh Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler

    Diterbitkan 2024-02-01
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  9. 9
    A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context

    A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context oleh Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang

    Diterbitkan 2023-06-01
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