Hasil Pencarian - Hope Northrup

Perbaiki Hasil
  1. 1
    P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion

    P304: Fifth case of MYH11-associated megacystis-microcolon-intestinal hypoperistalsis syndrome identified in patient with missense variant and whole gene deletion oleh Kathleen Shields, Hope Northrup

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder

    P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder oleh Kate Richardson, Hope Northrup

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    P278: Triple diagnoses with overlapping phenotypes: Recommendations and reflections

    P278: Triple diagnoses with overlapping phenotypes: Recommendations and reflections oleh Kate Richardson, Hope Northrup, S. Nicholas Russo, John Giang, Jenny Do

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex

    Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex oleh Kate Mowrey, Hope Northrup, Syed Shahrukh Hashmi, David Rodriguez-Buritica

    Diterbitkan 2022-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study

    Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study oleh Anjali Aggarwal, Hope Northrup, David F. Rodriguez-Buritica, S. Shahrukh Hashmi, Heather Saavedra

    Diterbitkan 2021-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

    Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V oleh Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A. Mosquera, Shade Moody, Aravind Yadav

    Diterbitkan 2018-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Identification of a novel microdeletion causative of Nance‐Horan syndrome

    Identification of a novel microdeletion causative of Nance‐Horan syndrome oleh Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey

    Diterbitkan 2022-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

    Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family oleh Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup

    Diterbitkan 2020-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

    Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin oleh Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

    Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks oleh Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

    Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients. oleh Catherine J Spellicy, Hope Northrup, Jack M Fletcher, Paul T Cirino, Maureen Dennis, Alanna C Morrison, Carla A Martinez, Kit Sing Au

    Diterbitkan 2012-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

    Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients. oleh Luke Hebert, Paul Hillman, Craig Baker, Michael Brown, Allison Ashley-Koch, James E Hixson, Alanna C Morrison, Hope Northrup, Kit Sing Au

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial

    Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial oleh John M. Slopis, Octavio Arevalo, Cynthia S. Bell, Adelaide A. Hebert, Hope Northrup, Roy F. Riascos, Joshua A. Samuels, Keri C. Smith, Patti Tate, Mary Kay Koenig

    Diterbitkan 2018-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.

    Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. oleh Iván Sánchez Fernández, Edward Yang, Paola Calvachi, Marta Amengual-Gual, Joyce Y Wu, Darcy Krueger, Hope Northrup, Martina E Bebin, Mustafa Sahin, Kun-Hsing Yu, Jurriaan M Peters, TACERN Study Group

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

    ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans oleh Hongyu Luo, Linjiang Lao, Kit Sing Au, Hope Northrup, Xiao He, Diane Forget, Marie-Soleil Gauthier, Benoit Coulombe, Isabelle Bourdeau, Wei Shi, Lucia Gagliardi, Maria Candida Barisson Villares Fragoso, Junzheng Peng, Jiangping Wu

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

    Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program oleh Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew G. Levy, Shaun Jones, Barbara K. Burton

    Diterbitkan 2024-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder

    Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder oleh Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E. Davis, Rajna Filip-Dhima, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Simon K. Warfield, on behalf of the TACERN Study Group

    Diterbitkan 2019-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports

    Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous... oleh Kate Mowrey, Hope Northrup, Peyton Rougeau, S. Shahrukh Hashmi, Darcy A. Krueger, Darcy A. Krueger, Daniel Ebrahimi-Fakhari, Daniel Ebrahimi-Fakhari, Alexander J. Towbin, Alexander J. Towbin, Andrew T. Trout, Andrew T. Trout, Jamie K. Capal, Jamie K. Capal, David Neal Franz, David Neal Franz, David Rodriguez-Buritica

    Diterbitkan 2021-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study

    Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study oleh Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Rajna Filip-Dhima, Kush Kapur, Clemente Velasco-Annis, Sean Clancy, Erin Carmody, Meghan Dean, Molly Valle, Sanjay P. Prabhu, Jurriaan M. Peters, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Mustafa Sahin, Simon K. Warfield

    Diterbitkan 2019-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    The genomic landscape of tuberous sclerosis complex

    The genomic landscape of tuberous sclerosis complex oleh Katie R. Martin, Wanding Zhou, Megan J. Bowman, Juliann Shih, Kit Sing Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie Koeman, Daniel J. Weisenberger, Sandra L. Cottingham, Steven T. DeRoos, Orrin Devinsky, Mary E. Winn, Andrew D. Cherniack, Hui Shen, Hope Northrup, Darcy A. Krueger, Jeffrey P. MacKeigan

    Diterbitkan 2017-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: