Výsledky vyhledávání - Neda Zadeh

  • Zobrazuji výsledky 1 - 8 z 8
Upřesnit hledání
  1. 1
    Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic

    Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic Autor Neda Zadeh, Terri Getzug, Wayne W. Grody

    Vydáno 2011
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  2. 2
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Autor Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)

    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome) Autor Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban‐Akdemir, Jill A. Rosenfeld, Chester Brown, Emily Chen, Shannon Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas‐Rothschild, Richard H. Scott, Hilary J. Vernon, Neda Zadeh, James R. Lupski, V. Reid Sutton

    Vydáno 2019
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis Autor Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care Autor David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthur E. DʼHarlingue, Ashmi Doshi, Katarzyna A. Ellsworth, Carolina I. Galarreta, Charlotte A. Hobbs, Kathleen Houtchens, Juliette Hunt, Priscilla Joe, Maries Joseph, Robert H. Kaplan, Stephen F. Kingsmore, Jason Knight, Aaina Kochhar, Richard Kronick, Jolie Limon, Madelena Martin, Katherine A. Rauen, Adam J. Schwarz, Suma P. Shankar, Rosanna Spicer, Mario A. Rojas, Ofelia Vargas-Shiraishi, Kristen Wigby, Neda Zadeh, Lauge Farnaes

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    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 Autor 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

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    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 Autor 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

    Vydáno 2023
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome Autor Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Vydáno 2021
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: