Výsledky vyhledávání - Carol Saunders

Upřesnit hledání
  1. 1
    The Role of Oocyte Transcription, the 5′UTR, and Translation Repression and Derepression in Drosophila gurken mRNA and Protein Localization

    The Role of Oocyte Transcription, the 5′UTR, and Translation Repression and Derepression in Drosophila gurken mRNA and Protein Localization Autor Carol Saunders, Robert S. Cohen

    Vydáno 1999
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Oral Fluconazole as Suppressive Therapy of Disseminated Cryptococcosis in Patients with Acquired Immunodeficiency Syndrome

    Oral Fluconazole as Suppressive Therapy of Disseminated Cryptococcosis in Patients with Acquired Immunodeficiency Syndrome Autor Alan M. Sugar, Carol Saunders

    Vydáno 1988
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

    Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine? Autor Stephen F. Kingsmore, Carol Saunders

    Vydáno 2011
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Trust in Virtual Teams: A Multidisciplinary Review and Integration

    Trust in Virtual Teams: A Multidisciplinary Review and Integration Autor Janine Hacker, Michael Pierre Johnson, Carol Saunders, Amanda L. Thayer

    Vydáno 2019
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  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 Autor Darrell L. Dinwiddie, Sarah Soden, Carol Saunders, Neil Miller, Emily Farrow, Laurie D. Smith, Stephen F. Kingsmore

    Vydáno 2013
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Next-generation community genetics for low- and middle-income countries

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

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Clinical genome sequencing in an unbiased pediatric cohort

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

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    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 Autor Darrell L. Dinwiddie, Laurie D. Smith, Neil Miller, Andrea M. Atherton, Emily Farrow, Meghan E. Strenk, Sarah Soden, Carol Saunders, Stephen F. Kingsmore

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies Autor Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers

    Vydáno 2025
    Získat plný text
    Pré-impressão
    Přidat do oblíbených
    Uloženo v:
  10. 10
    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 Autor 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

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing Autor 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

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    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 Autor 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

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    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 Autor 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

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome

    Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome Autor Raffaele Badolato, Alberto Prandini, Sonia Caracciolo, Francesca Colombo, Giovanna Tabellini, Mauro Giacomelli, Maria Elena Cantarini, Andrea Pession, Callum J. Bell, Darrell L. Dinwiddie, Neil Miller, Shannon Hateley, Carol Saunders, Lu Zhang, Gary P. Schroth, Alessandro Plebani, Silvia Parolini, Stephen F. Kingsmore

    Vydáno 2012
    Získat plný text Získat plný text
    Carta
    Přidat do oblíbených
    Uloženo v:
  15. 15
    Clinical detection of deletion structural variants in whole-genome sequences

    Clinical detection of deletion structural variants in whole-genome sequences Autor Aaron Noll, Neil Miller, Laurie D. Smith, Byunggil Yoo, Stephanie D. Fiedler, Linda D. Cooley, Laurel K. Willig, Josh E Petrikin, Julie A. Cakici, J G Lesko, Angela E. Newton, Kali Detherage, Isabelle Thiffault, Carol Saunders, Emily Farrow, Stephen F. Kingsmore

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  16. 16
    The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

    The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants Autor Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney, Emily Farrow, Carol Saunders, Isabelle Thiffault, Neil Miller, Lee Zellmer, Suzanne Herd, Anne Holmes, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, David Dimmock, J. Steven Leeder, Stephen F. Kingsmore

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies Autor Vilma‐Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, M. Marttila, Carol Saunders, P. G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas Winder, Katarina Pelin, Carina Wallgren‐Pettersson

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

    A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases Autor Neil Miller, Emily Farrow, Margaret Gibson, Laurel K. Willig, Greyson P Twist, Byunggil Yoo, T. C. Marrs, Shane Corder, Lisa Ann Krivohlavek, Adam Walter, Josh E Petrikin, Carol Saunders, Isabelle Thiffault, Sarah Soden, Laurie D. Smith, Darrell L. Dinwiddie, Suzanne Herd, Julie A. Cakici, Severine Catreux, Mike Ruehle, Stephen F. Kingsmore

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

    Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units Autor Carol Saunders, Neil Miller, Sarah Soden, Darrell L. Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie Patterson, Lisa Ann Krivohlavek, Joel Fellis, Sean Humphray, Peter Saffrey, Zoya Kingsbury, Jacqueline C. Weir, Jason Betley, Russell Grocock, Elliott H. Margulies, Emily Farrow, Michael Artman, Nicole P. Safina, Joshua E. Petrikin, Kevin P. Hall, Stephen F. Kingsmore

    Vydáno 2012
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  20. 20
    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene

    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene Autor Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Geneviève Bernard, Isabella R. Straub, Martine Tétreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S. Rosenblatt, Eric A. Shoubridge, Aziz Mhanni, Tara Myers, Virginia K. Proud, S. Schrier Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole P. Safina, Carol Saunders, Kym M. Boycott, Isabelle Thiffault

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: