نتائج البحث - Catherine Rehder

  • يعرض 1 - 17 نتائج من 17
تنقيح النتائج
  1. 1
    Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience

    Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using <i>GAA</i> mutations: Lessons learned from 10 years of clinical laboratory testing experience... حسب Deeksha Bali, Jennifer Goldstein, Suhrad G. Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, Priya S. Kishnani

    منشور في 2012
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Pseudo–Pelger-Huët Anomaly Induced by Medications

    Pseudo–Pelger-Huët Anomaly Induced by Medications حسب Endi Wang, Elizabeth Boswell, Imran Siddiqi, Chuanyi M. Lu, Siby Sebastian, Catherine Rehder, Qin Huang

    منشور في 2011
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) حسب Joshua L. Deignan, Wendy K. Chung, Hutton M. Kearney, Kristin G. Monaghan, Catherine Rehder, Elizabeth Chao

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

    Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus حسب Ram S. Puranam, Xiang He, Yao Li, Thuy Le, Wonjo Jang, Catherine Rehder, Darrell V. Lewis, James O. McNamara

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Adriamycin-induced Senescence in Breast Tumor Cells Involves Functional p53 and Telomere Dysfunction

    Adriamycin-induced Senescence in Breast Tumor Cells Involves Functional p53 and Telomere Dysfunction حسب Lynne W. Elmore, Catherine Rehder, Xu Di, Patricia A. McChesney, Colleen Jackson‐Cook, David A. Gewirtz, Shawn E. Holt

    منشور في 2002
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding

    Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding حسب Susanne B. Haga, Rachel Mills, Kathryn I. Pollak, Catherine Rehder, Adam H. Buchanan, Isaac M. Lipkus, Jennifer H. Crow, Michael Datto

    منشور في 2014
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

    Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene حسب Deeksha Bali, Jennifer Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard E. Lutz, Avihu Boneh, Priya S. Kishnani

    منشور في 2013
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACM... حسب Catherine Rehder, Lora Jh Bean, David Bick, Elizabeth Chao, Wendy K. Chung, Soma Das, Julianne O’Daniel, Heidi L. Rehm, Vandana Shashi, Lisa M. Vincent

    منشور في 2021
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical... حسب Patrick R. Gonzales, Erica Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, on behalf of the ACMG Laboratory Quality Assurance Committee

    منشور في 2021
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

    Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy حسب Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater, Deeksha Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine Rehder, Eleanor G. Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki‐Szymańska, Nesrin Karabul, Amy Rosenburg, Priya S. Kishnani

    منشور في 2015
    احصل على النص الكامل احصل على النص الكامل
    Errata/Corrigenda
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

    CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy حسب Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater, Deeksha Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine Rehder, Eleanor G. Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki‐Szymańska, Nesrin Karabul, Amy Rosenburg, Priya S. Kishnani

    منشور في 2015
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

    Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina حسب Stacey Lee, Kristin Clinard, Sarah P. Young, Catherine Rehder, Zheng Fan, Ali S. Çalıkoğlu, Deeksha Bali, Donald B. Bailey, Lisa M. Gehtland, David S. Millington, Hari S. Patel, Sara E. Beckloff, Scott J. Zimmerman, Cynthia M. Powell, Jennifer Taylor

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy... حسب Suhrad G. Banugaria, Sean N. Prater, Trusha Patel, Stephanie DeArmey, Christie Milleson, Kathryn L. Berrier, Deeksha Bali, Catherine Rehder, Julian Raiman, Raymond A. Wang, François Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S. Rosenberg, Priya S. Kishnani

    منشور في 2013
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    Donor Cell–Derived Leukemias/Myelodysplastic Neoplasms in Allogeneic Hematopoietic Stem Cell Transplant Recipients

    Donor Cell–Derived Leukemias/Myelodysplastic Neoplasms in Allogeneic Hematopoietic Stem Cell Transplant Recipients حسب Endi Wang, Charles Blake Hutchinson, Qin Huang, Chuanyi M. Lu, Jennifer Crow, Frances F. Wang, Siby Sebastian, Catherine Rehder, Anand S. Lagoo, Mitchell E. Horwitz, David A. Rizzieri, Jingwei Yu, Barbara K. Goodman, Michael Datto, Patrick J. Buckley

    منشور في 2011
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I

    O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I حسب Jenny Goldstein, Amber Waddell, Carlos Alberto de Moura Aschoff, Xiangwen Chen‐Deutsch, Matthew Ellinwood, Roberto Méndez, Raquel Fernández, Deeksha Bali, Troy C. Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy C. Wood, Lorne A. Clarke, Catherine Rehder

    منشور في 2024
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    The Global ALPL gene variant classification project: Dedicated to deciphering variants

    The Global ALPL gene variant classification project: Dedicated to deciphering variants حسب Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl R. Greenberg, Kathryn Dahir, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M A Delana Mudiyanselage, Florian Högler, Erica B. Nading, Erin Huggins, Eric T. Rush, Ahmed El‐Gazzar, Priya S. Kishnani, Wolfgang Högler

    منشور في 2023
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    A copy number variation morbidity map of developmental delay

    A copy number variation morbidity map of developmental delay حسب Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles A. Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel‐Hamid, Patricia I. Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen A. Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome L. Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    منشور في 2011
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: