Rezultati pretrage - Brownstein, Zippora

High-throughput sequencing to decipher the genetic heterogeneity of deafness od Brownstein, Zippora, Bhonker, Yoni, Avraham, Karen B

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Integration of Human and Mouse Genetics Reveals Pendrin Function in Hearing and Deafness od Dror, Amiel A., Brownstein, Zippora, Avraham, Karen B.

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Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness od Sokolov, Meirav, Brownstein, Zippora, Frydman, Moshe, Avraham, Karen B.

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Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations od Dossena, Silvia, Nofziger, Charity, Brownstein, Zippora, Kanaan, Moien, Avraham, Karen B., Paulmichl, Markus

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The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry od Behar, Doron M., Davidov, Bella, Brownstein, Zippora, Ben-Yosef, Tamar, Avraham, Karen B., Shohat, Mordechai

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

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SPIKE: a database of highly curated human signaling pathways od Paz, Arnon, Brownstein, Zippora, Ber, Yaara, Bialik, Shani, David, Eyal, Sagir, Dorit, Ulitsky, Igor, Elkon, Ran, Kimchi, Adi, Avraham, Karen B., Shiloh, Yosef, Shamir, Ron

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Genetic heterogeneity and core clinical features of NOG-related-symphalangism spectrum disorder od Carlson, Ryan J., Quesnel, Alicia, Wells, Dawson, Brownstein, Zippora, Gilony, Dror, Gulsuner, Suleyman, Leppig, Kathleen A., Avraham, Karen B., King, Mary-Claire, Walsh, Tom, Rubinstein, Jay

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Genetics of hearing loss in the Arab population of Northern Israel od Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B., Shalev, Stavit A.

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Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice od Parzefall, Thomas, Shivatzki, Shaked, Lenz, Danielle R., Rathkolb, Birgit, Ushakov, Kathy, Karfunkel, Daphne, Shapira, Yisgav, Wolf, Michael, Mohr, Manuela, Wolf, Eckhard, Sabrautzki, Sibylle, De Angelis, Martin Hrabé, Frydman, Moshe, Brownstein, Zippora, Avraham, Karen B.

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The LINC complex is essential for hearing od Horn, Henning F., Brownstein, Zippora, Lenz, Danielle R., Shivatzki, Shaked, Dror, Amiel A., Dagan-Rosenfeld, Orit, Friedman, Lilach M., Roux, Kyle J., Kozlov, Serguei, Jeang, Kuan-Teh, Frydman, Moshe, Burke, Brian, Stewart, Colin L., Avraham, Karen B.

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Genomic analysis of inherited hearing loss in the Palestinian population od Abu Rayyan, Amal, Kamal, Lara, Casadei, Silvia, Brownstein, Zippora, Zahdeh, Fouad, Shahin, Hashem, Canavati, Christina, Dweik, Dima, Jaraysa, Tamara, Rabie, Grace, Carlson, Ryan J., Gulsuner, Suleyman, Lee, Ming K., Avraham, Karen B., Walsh, Tom, King, Mary-Claire, Kanaan, Moien N.

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Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51 od Walsh, Tom, Pierce, Sarah B., Lenz, Danielle R., Brownstein, Zippora, Dagan-Rosenfeld, Orit, Shahin, Hashem, Roeb, Wendy, McCarthy, Shane, Nord, Alex S., Gordon, Carlos R., Ben-Neriah, Ziva, Sebat, Jonathan, Kanaan, Moien, Lee, Ming K., Frydman, Moshe, King, Mary-Claire, Avraham, Karen B.

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

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing od Hirsch, Yoel, Tangshewinsirikul, Chayada, Booth, Kevin T., Azaiez, Hela, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Brownstein, Zippora, Macarov, Michal, Davidov, Bella, Pappas, John, Rabin, Rachel, Kenna, Margaret A., Oza, Andrea M., Lafferty, Katherine, Amr, Sami S., Rehm, Heidi L., Kolbe, Diana L., Frees, Kathy, Nishimura, Carla, Luo, Minjie, Farra, Chantal, Morton, Cynthia C., Scher, Sholem Y., Ekstein, Josef, Avraham, Karen B., Smith, Richard J. H., Shen, Jun

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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene od Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, French, Curtis R., Singh, Sushma, Werdyani, Salem, Burt, Taylor, Abdelfatah, Nelly, Houston, Jim, Doucette, Lance P., Squires, Jessica, Glaser, Fabian, Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, Woodland, Geoffrey, Benoukraf, Touati, Hawkey-Noble, Alexia, Avraham, Karen B., Stanton, Susan G., Young, Terry-Lynn

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Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study od del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J. H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel od Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou

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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 od Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio Tadeu Arrojo, Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik-Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial-Farran, Nada, Abu-Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnþórsson, Ásgeir Örn, Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samara, Nadra, Zvi, Na’ama, Baris-Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali-Naffaa, Doaa, Ruhrman-Shahar, Noa, Madgar, Ory, Sofrin, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel-Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien, Allon-Shalev, Stavit, King, Mary-Claire, Avraham, Karen B.

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study od Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy

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