Výsledky vyhledávání - Rivka Sukenik‐Halevy

  • Zobrazuji výsledky 1 - 4 z 4
Upřesnit hledání
  1. 1
    Oocyte activation by calcium ionophore and congenital birth defects: a retrospective cohort study

    Oocyte activation by calcium ionophore and congenital birth defects: a retrospective cohort study Autor Netanella Miller, Tal Biron‐Shental, Rivka Sukenik‐Halevy, Anat Hershko Klement, Reuven Sharony, Arie Berkovitz

    Vydáno 2016
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications Autor Andreas Janecke, Ruijuan Xu, Elisabeth Steichen‐Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris M. Krainer, Lukas A. Huber, Michael W. Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer‐Shafir, Rivka Sukenik‐Halevy, Tania Zehavi, Annick Raas‐Rothschild, Cungui Mao, Thomas Müller

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures Autor Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Autor Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Vydáno 2025
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: