Ngā hua rapu - Jenny Thies

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  1. 1
    Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease

    Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease mā Jonathan Marquez, Stephen Viviano, Erika Beckman, Jenny Thies, Joshua Friedland‐Little, Christina Lam, Engin Deniz, Emily Shelkowitz

    I whakaputaina 2025
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    Artigo
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  2. 2
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy mā Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    I whakaputaina 2018
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    Artigo
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  3. 3
    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children mā Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Mallory B. Smith, Katie Fogus, Heather C. Mefford, Christina Lam, Margaret P Adam, Angela Sun, John K. McGuire, Robert DiGeronimo, Katrina M. Dipple, Gail Deutsch, Zeenia Billimoria, James T. Bennett

    I whakaputaina 2020
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    Artigo
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  4. 4
    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association

    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association mā Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A. Poskanzer, Sara K. Rasmussen, Katelyn M. Saarela, YunZu Michele Wang, Kimiyo Raymond, Matthew Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He

    I whakaputaina 2023
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    Artigo
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  5. 5
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants mā Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    I whakaputaina 2018
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  6. 6
    Targeted long-read sequencing identifies missing disease-causing variation

    Targeted long-read sequencing identifies missing disease-causing variation mā Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Tom Walsh, Jenny Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne Hing, Tara Wenger, Margaret P Adam, Angela Sun, Christina Lam, Irene J. Chang, Xue Zou, Stephanie Austin, Erin Huggins, Alexias Safi, Apoorva K. Iyengar, Timothy E. Reddy, William H. Majoros, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Mary‐Claire King, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Issue Information

    Issue Information mā Kelly A. Tappenden, David A. August, Juan B. Ochoa, Joseph I. Boullata, Rph Jean, Charles Preiser, Kathleen M. Gura, Marion F. Winkler, Russell J. Merritt, Lillian Banchik, Ding‐You Li, Ronald L. Koretz, Aspen Staff, Wanda Johnson, Kassie Stovell, Catherine B. Klein, Michaël P. Casaer, Isabel Correia, John K. DiBaise, Rose Ann DiMaria‐Ghalili, John Drover, Kazuhiko Fukatsu, Praveen S. Goday, Rosemary A. Kozar, Laura E. Matarese, Sarah Miller, Alan Shenkin, Emma M. Tillman, Justine Turner, Brian Winther, Khursheed N. Jeejeebhoy, St Michael', Douglas W. Wilmore, Bruce R. Bistrian, Josef Finsterer, H. Zweers, Mirian C. H. Janssen, Geert Wanten, Marie Norris, Anna Scott, S.M. Sullivan, Irene Chang, Christina Lam, Angela Sun, Sihoun Hahn, Jenny Thies, Melissa Gunnarson, Kelly N. McKean, J. Lawrence Merritt

    I whakaputaina 2021
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  8. 8
    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability mā Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal

    I whakaputaina 2017
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    Artigo
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