نتائج البحث - Daniel Wegner

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  1. 1
    Baculovirus surface display: Construction and screening of a eukaryotic epitope library

    Baculovirus surface display: Construction and screening of a eukaryotic epitope library حسب Wolfgang Ernst, Reingard Grabherr, Daniel Wegner, Nicole Borth, Andreas Grassauer, H. Katinger

    منشور في 1998
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  2. 2
    An intronic ABCA3 mutation that is responsible for respiratory disease

    An intronic ABCA3 mutation that is responsible for respiratory disease حسب Amit Agrawal, Aaron Hamvas, F. Sessions Cole, Jennifer Wambach, Daniel Wegner, Carl Coghill, Keith Harrison, Lawrence M. Nogee

    منشور في 2012
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  3. 3
    Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

    Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype حسب Eline van Meel, Daniel Wegner, Paul F. Cliften, Marcia Willing, Frances V. White, Stuart Kornfeld, F. Sessions Cole

    منشور في 2013
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  4. 4
    Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

    Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency حسب Jennifer Wambach, Alicia Casey, Martha P. Fishman, Daniel Wegner, Susan E. Wert, F. Sessions Cole, Aaron Hamvas, Lawrence M. Nogee

    منشور في 2014
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  5. 5
    Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations

    Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations حسب Meghan A Coghlan, Adrian Shifren, Howard J. Huang, Tonya Russell, Robi D. Mitra, Qunyuan Zhang, Daniel Wegner, F. Sessions Cole, Aaron Hamvas

    منشور في 2014
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  6. 6
    Single <i>ABCA3</i> Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

    Single <i>ABCA3</i> Mutations Increase Risk for Neonatal Respiratory Distress Syndrome حسب Jennifer Wambach, Daniel Wegner, Kelcey DePass, Hillary B. Heins, Todd E. Druley, Robi D. Mitra, Ping An, Qunyuan Zhang, Lawrence M. Nogee, F. Sessions Cole, Aaron Hamvas

    منشور في 2012
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  7. 7
    Functional Characterization of <i>ATP-Binding Cassette Transporter A3</i> Mutations from Infants with Respiratory Distress Syndrome

    Functional Characterization of <i>ATP-Binding Cassette Transporter A3</i> Mutations from Infants with Respiratory Distress Syndrome حسب Jennifer Wambach, Ping Yang, Daniel Wegner, Hillary B. Heins, Lyudmila N. Kaliberova, Sergey A. Kaliberov, David T. Curiel, Frances V. White, Aaron Hamvas, Brian P. Hackett, F. Sessions Cole

    منشور في 2016
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  8. 8
    Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

    Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation حسب C. Towe, Frances V. White, R. Mark Grady, Stuart C. Sweet, Pirooz Eghtesady, Daniel Wegner, Partha Sen, Przemysław Szafrański, Paweł Stankiewicz, Aaron Hamvas, F. Sessions Cole, Jennifer Wambach

    منشور في 2017
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  9. 9
    Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

    Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency حسب Tami H Garmany, Jennifer Wambach, Hillary B. Heins, Julie M Watkins-Torry, Daniel Wegner, Kate Bennet, Ping An, Garland Land, Ola Didrik Saugstad, Howard Henderson, Lawrence M. Nogee, F. Sessions Cole, Aaron Hamvas

    منشور في 2008
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  10. 10
    Quantification of rare allelic variants from pooled genomic DNA

    Quantification of rare allelic variants from pooled genomic DNA حسب Todd E. Druley, Francesco Vallania, Daniel Wegner, Katherine E. Varley, Olivia L Knowles, Jacqueline A. Bonds, Sarah W. Robison, Scott W Doniger, Aaron Hamvas, F. Sessions Cole, Justin C. Fay, Robi D. Mitra

    منشور في 2009
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  11. 11
    Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

    Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome حسب Jennifer Wambach, Daniel Wegner, Nivedita Patni, Martin Kircher, Marcia Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

    منشور في 2018
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  12. 12
    Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

    Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease حسب Ian D. Krantz, Līvija Medne, Jamila Weatherly, K. Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen Fishler, Omar Abdul‐Rahman, Joshua C. Euteneuer, Denise M. Hoover, David Dimmock, John P. Cleary, Lauge Farnaes, Jason Knight, Adam J. Schwarz, Ofelia Vargas-Shiraishi, Kristin Wigby, Neda Zadeh, Marwan Shinawi, Jennifer Wambach, Dustin Baldridge, F. Sessions Cole, Daniel Wegner, Nora Urraca, Shannon Holtrop, Roya Mostafavi, Henry J. Mroczkowski, Enikö K. Pivnick, Jewell C. Ward, Ajay J. Talati, Chester Brown, John W. Belmont, Julia Ortega, Keisha Robinson, W. Tyler Brocklehurst, Denise Perry, Subramanian S. Ajay, R. Tanner Hagelstrom, Maren Bennett, Vani Rajan, Ryan J. Taft

    منشور في 2021
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  13. 13
    Bi-allelic variants in INTS11 are associated with a complex neurological disorder

    Bi-allelic variants in INTS11 are associated with a complex neurological disorder حسب Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza

    منشور في 2023
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