Hasil Pencarian - Cynthia Tifft

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  1. 1
    P237: Diagnosis of Cornelia de Lange syndrome through EPISign whole genome methylation assay: Findings from a twin case

    P237: Diagnosis of Cornelia de Lange syndrome through EPISign whole genome methylation assay: Findings from a twin case oleh Tiffany Jong, Ellen Macnamara, Cynthia Tifft

    Diterbitkan 2024-01-01
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  2. 2
    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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  3. 3
    The diagnostic journey for patients with late-onset GM2 Gangliosidoses

    The diagnostic journey for patients with late-onset GM2 Gangliosidoses oleh Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu

    Diterbitkan 2023-12-01
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  4. 4
    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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  5. 5
    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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  6. 6
    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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  7. 7
    Correction: Whole-Exome Sequencing Identifies Homozygous Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial -AAA Proteases.

    Correction: Whole-Exome Sequencing Identifies Homozygous Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial -AAA Proteases. oleh Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

    Diterbitkan 2013-02-01
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  8. 8
    Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

    Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. oleh Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I Rugarli, Thomas Langer, William A Gahl, Camilo Toro

    Diterbitkan 2011-10-01
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  9. 9
    Initiating an undiagnosed diseases program in the Western Australian public health system

    Initiating an undiagnosed diseases program in the Western Australian public health system oleh Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt

    Diterbitkan 2017-05-01
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