Resultats de la cerca - Pola Smirin‐Yosef

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  1. 1
    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

    A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis per Pola Smirin‐Yosef, Nehama Zuckerman‐Levin, Shay Tzur, Yaron Granot, Lior Cohen, Juliane Sachsenweger, Guntram Borck, Irina Lagovsky, Mali Salmon‐Divon, Lisa Wiesmüller, Lina Basel‐Vanagaite

    Publicat 2016
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  2. 2
    Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

    Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory per Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Pola Smirin‐Yosef, Liesbeth Vossaert, Christian Taborda, Michael Santana, Ido Machol, Rui Xiao, Hongzheng Dai, Christine M. Eng, Fan Xia, Shay Tzur

    Publicat 2023
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  3. 3
    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum per Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall‐Chaure, Naseebullah Kakar, Pola Smirin‐Yosef, Marta Vila‐Pueyo, Liora Kornreich, Hölger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik‐Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck

    Publicat 2013
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  4. 4
    eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

    eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation per Guntram Borck, Byung‐Sik Shin, Barbara Stiller, Aviva Mimouni-Bloch, Holger Thiele, Joo-Ran Kim, Meghna Thakur, Cindy Skinner, Lara Aschenbach, Pola Smirin‐Yosef, Adi Har‐Zahav, Gudrun Nürnberg, Janine Altmüller, Peter Frommolt, Kay Hofmann, Osnat Konen, Peter Nürnberg, Arnold Münnich, Charles E. Schwartz, Doron Gothelf, Laurence Colleaux, Thomas Dever, Christian Kubisch, Lina Basel‐Vanagaite

    Publicat 2012
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  5. 5
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis per Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    Publicat 2019
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