Rezultati - Emily Farrow

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  1. 1
    Recent advances in renal phosphate handling

    Recent advances in renal phosphate handling od Emily Farrow, Kenneth E. White

    Izdano 2010
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  2. 2
    Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)

    Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho) od Emily Farrow, Erik A. Imel, Kenneth E. White

    Izdano 2011
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  3. 3
    Initial FGF23-Mediated Signaling Occurs in the Distal Convoluted Tubule

    Initial FGF23-Mediated Signaling Occurs in the Distal Convoluted Tubule od Emily Farrow, Siobhan I. Davis, Lelia J. Summers, Kenneth E. White

    Izdano 2009
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  4. 4
    Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo

    Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo od Yumie Rhee, Nicoletta Bivi, Emily Farrow, Virginia Lezcano, Lilian I. Plotkin, Kenneth E. White, Teresita Bellido

    Izdano 2011
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  5. 5
    De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

    De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies od Darrell L. Dinwiddie, Sarah Soden, Carol Saunders, Neil Miller, Emily Farrow, Laurie D. Smith, Stephen F. Kingsmore

    Izdano 2013
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  6. 6
    Next-generation community genetics for low- and middle-income countries

    Next-generation community genetics for low- and middle-income countries od Stephen F. Kingsmore, John D. Lantos, Darrell L. Dinwiddie, Neil Miller, Sarah Soden, Emily Farrow, Carol Saunders

    Izdano 2012
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  7. 7
    Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen’s Metaphyseal Chondrodysplasia

    Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen’s Metaphyseal Chondrodysplasia od Whitney W. Brown, Harald Jüppner, Craig B. Langman, Heather E. Price, Emily Farrow, Kenneth E. White, Kenneth McCormick

    Izdano 2008
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  8. 8
    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing od Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperavičiūtė, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle

    Izdano 2023
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  9. 9
    Rapid and scalable personalized ASO screening in patient-derived organoids

    Rapid and scalable personalized ASO screening in patient-derived organoids od John C. Means, Anabel Martinez‐Bengochea, Daniel Louiselle, Jacqelyn Nemechek, John M. Perry, Emily Farrow, Tomi Pastinen, Scott T. Younger

    Izdano 2025
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  10. 10
    Clinical genome sequencing in an unbiased pediatric cohort

    Clinical genome sequencing in an unbiased pediatric cohort od Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Margaret Gibson, Raymond Caylor, Janda Jenkins, Deb Faller, Sarah Soden, Carol Saunders

    Izdano 2018
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  11. 11
    Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

    Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome od Darrell L. Dinwiddie, Laurie D. Smith, Neil Miller, Andrea M. Atherton, Emily Farrow, Meghan E. Strenk, Sarah Soden, Carol Saunders, Stephen F. Kingsmore

    Izdano 2013
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  12. 12
    Pangenome graphs improve the analysis of structural variants in rare genetic diseases

    Pangenome graphs improve the analysis of structural variants in rare genetic diseases od Cristian Groza, Carl Schwendinger-Schreck, Warren Cheung, Emily Farrow, Isabelle Thiffault, Juniper A. Lake, William B. Rizzo, Gilad D. Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

    Izdano 2024
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  13. 13
    Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

    Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets od Emily Farrow, Siobhan I. Davis, Leanne M. Ward, Lelia J. Summers, Judith Bubbear, Richard Keen, Trevor Stamp, L. R. I. Baker, Lynda F. Bonewald, Kenneth E. White

    Izdano 2008
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  14. 14
    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria od Carol Saunders, Laurie D. Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea M. Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Østergaard

    Izdano 2015
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  15. 15
    Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice

    Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice od Erica L. Clinkenbeard, Emily Farrow, Lelia J. Summers, Taryn A. Cass, Jessica Roberts, Christine A Bayt, Tim Lahm, Marjorie Albrecht, Matthew R. Allen, Munro Peacock, Kenneth E. White

    Izdano 2013
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  16. 16
    Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

    Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies od Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher Romero, Shoji Ichikawa, Emily Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, Rachel I. Gafni

    Izdano 2018
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  17. 17
    Alström Syndrome: Mutation Spectrum of<i>ALMS1</i>

    Alström Syndrome: Mutation Spectrum of<i>ALMS1</i> od Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell L. Dinwiddie, Emily Farrow, Neil Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor, Jürgen Κ. Naggert

    Izdano 2015
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  18. 18
    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing od Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D’Assante, Alberto Prandini, Rita Consolini, Emily Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

    Izdano 2016
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  19. 19
    A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization

    A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization od Isabelle Thiffault, David J. Speca, Daniel C. Austin, Melanie M. Cobb, Kenneth S. Eum, Nicole P. Safina, Lauren Grote, Emily Farrow, Neil Miller, Sarah Soden, Stephen F. Kingsmore, James S. Trimmer, Carol Saunders, Jon T. Sack

    Izdano 2015
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  20. 20
    GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

    GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant od Michelle M. Giddens, Jennifer C. Wong, Jason P. Schroeder, Emily Farrow, Brilee M. Smith, Sharon Owino, Sarah Soden, Rebecca C. Meyer, Carol Saunders, Jean-Baptiste LePichon, David Weinshenker, Andrew Escayg, Randy A. Hall

    Izdano 2017
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