Hasil Pencarian - Kimberly Goodspeed

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  1. 1
    Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference

    Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference oleh Kimberly Goodspeed, Geraldine Bliss, Diane Linnehan

    Diterbitkan 2020-06-01
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  2. 2
    Characterization of the SRD5A3-CDG Clinical Spectrum

    Characterization of the SRD5A3-CDG Clinical Spectrum oleh Victor Daescu, Daniel Horton, Kimberly Goodspeed

    Diterbitkan 2023-07-01
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  3. 3
    Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder

    Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder oleh Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Susan T. Iannaccone, Kimberly Goodspeed, Kimberly Goodspeed, Kimberly Goodspeed

    Diterbitkan 2023-02-01
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  4. 4
    A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management

    A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management oleh Tuba Rashid Khan, Alison Dolce, Kimberly Goodspeed

    Diterbitkan 2022-02-01
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  5. 5
    P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design

    P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design oleh Terry Jo Bichell, Natasha Ludwig, Elizabeth Rountree, Seth Berger, Kimberly Goodspeed

    Diterbitkan 2023-01-01
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  6. 6
    424 Clinical Translational Approach to Targeted Therapy in SLC6A1-related Neurodevelopmental Disorder

    424 Clinical Translational Approach to Targeted Therapy in SLC6A1-related Neurodevelopmental Disorder oleh Kimberly Goodspeed, Deepa Sirsi, Steven Gray, Matthew Rioux, WeiRui Guo, Susan Iannaccone

    Diterbitkan 2023-04-01
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  7. 7
    A cross‐sectional natural history study of aspartylglucosaminuria

    A cross‐sectional natural history study of aspartylglucosaminuria oleh Kimberly Goodspeed, Daniel Horton, Andrea Lowden, Peter V. Sguigna, Timothy Booth, Zhiyue J. Wang, Veronica Bordes Edgar

    Diterbitkan 2022-09-01
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  8. 8
    Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

    Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications oleh Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung, Kimberly Goodspeed

    Diterbitkan 2022-06-01
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  9. 9
    Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies

    Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies oleh Kimberly Goodspeed, Rachel M. Bailey, Rachel M. Bailey, Suyash Prasad, Chanchal Sadhu, Jessica A. Cardenas, Mary Holmay, Deborah A. Bilder, Berge A. Minassian

    Diterbitkan 2022-06-01
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  10. 10
    A draft conceptual model of SLC6A1 neurodevelopmental disorder

    A draft conceptual model of SLC6A1 neurodevelopmental disorder oleh Kimberly Goodspeed, Lindsay R. Mosca, Nicole C. Weitzel, Kyle Horning, Elijah W. Simon, Anna C. Pfalzer, Maya Xia, Katherine Langer, Amber Freed, Megan Bone, Maria Picone, Terry Jo V. Bichell

    Diterbitkan 2023-01-01
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  11. 11
    Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

    Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants oleh Islam Oguz Tuncay, Nancy L. Parmalee, Raida Khalil, Kiran Kaur, Ashwani Kumar, Mohamed Jimale, Jennifer L. Howe, Kimberly Goodspeed, Patricia Evans, Loai Alzghoul, Chao Xing, Stephen W. Scherer, Maria H. Chahrour

    Diterbitkan 2022-02-01
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  12. 12
    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-08-01
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  13. 13
    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-07-01
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