Sökresultat - Rachel Westman

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  1. 1
    Vaginal Microbiota of Women with Frequent Vulvovaginal Candidiasis

    Vaginal Microbiota of Women with Frequent Vulvovaginal Candidiasis av Xia Zhou, Rachel Westman, Roxana Hickey, Melanie A. Hansmann, Colleen M. Kennedy, T.W. Osborn, Larry J. Forney

    Publicerad 2009
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  2. 2
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants av 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

    Publicerad 2018
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  3. 3
    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants av Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann

    Publicerad 2017
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  4. 4
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants av Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    Publicerad 2017
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  5. 5
    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production av Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka‐Turski, Tianyun Wang, Tzung‐Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley C. Adès, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie‐José H. van den Boogaard, Jennifer Wambach, D.J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C. Towne, Kristine Bachman, Andrea Seeley, Anita Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hákon Hákonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René G. Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François V. Bolduc, Elke Krüger, Stéphane Bézieau

    Publicerad 2023
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