Risultati della ricerca - Bella Davidov

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  1. 1
    Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

    Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing di Zippora Brownstein, Amal Abu Rayyan, Daphne Karfunkel-Doron, Serena Sirigu, Bella Davidov, Mordechai Shohat, Moshe Frydman, Anne Houdusse, Moien Kanaan, Karen B. Avraham

    Pubblicazione 2013
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  2. 2
    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel di Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat

    Pubblicazione 2001
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  3. 3
    Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

    Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families di Zippora Brownstein, Lilach M. Friedman, Hashem Shahin, Varda Oron‐Karni, Nitzan Kol, Amal Abu Rayyan, Thomas Parzefall, Dorit Lev, Stavit A. Shalev, Moshe Frydman, Bella Davidov, Mordechai Shohat, Michele Rahile, Sari Lieberman, Ephrat Levy‐Lahad, Ming K. Lee, Noam Shomron, Mary‐Claire King, Tom Walsh, Moien Kanaan, Karen B. Avraham

    Pubblicazione 2011
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  4. 4
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel di Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    Pubblicazione 2019
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  5. 5
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis di Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    Pubblicazione 2019
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