Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation

بواسطة Ohry, Avi, Frydman, Moshe
منشور في 2010

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

بواسطة Sokolov, Meirav, Brownstein, Zippora, Frydman, Moshe, Avraham, Karen B.
الحاوية / القاعدة J Basic Clin Physiol Pharmacol (2014)

Late onset fulminant Wilson’s disease: A case report and review of the literature

بواسطة Weitzman, Ella, Pappo, Orit, Weiss, Peretz, Frydman, Moshe, Haviv-Yadid, Yael, Ben Ari, Ziv
الحاوية / القاعدة World J Gastroenterol (2014)

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

بواسطة Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
منشور في 2008

Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]

بواسطة Zafer, Emre, Meck, Jeanne, Gerrad, Liora, Pras, Elon, Frydman, Moshe, Reish, Orit, Avni, Isaac, Pras, Eran
منشور في 2008

A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

بواسطة Pras, Eran, Levy-Nissenbaum, Etgar, Bakhan, Tangiz, Lahat, Hadas, Assia, Ehud, Geffen-Carmi, Noa, Frydman, Moshe, Goldman, Boleslaw, Pras, Elon
منشور في 2002

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

بواسطة Brownstein, Zippora, Abu-Rayyan, Amal, Karfunkel-Doron, Daphne, Sirigu, Serena, Davidov, Bella, Shohat, Mordechai, Frydman, Moshe, Houdusse, Anne, Kanaan, Moien, Avraham, Karen B
منشور في 2014

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

بواسطة Chen, Jianjun, Ma, Zhiwei, Jiao, Xiaodong, Fariss, Robert, Kantorow, Wanda Lee, Kantorow, Marc, Pras, Eran, Frydman, Moshe, Pras, Elon, Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
منشور في 2011

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

بواسطة Nagamani, Sandesh C S, Erez, Ayelet, Ben-Zeev, Bruria, Frydman, Moshe, Winter, Susan, Zeller, Robert, El-Khechen, Dima, Escobar, Luis, Stankiewicz, Pawel, Patel, Ankita, Wai Cheung, Sau
منشور في 2013

Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

بواسطة 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.
منشور في 2013

The LINC complex is essential for hearing

بواسطة 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.
منشور في 2013

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

بواسطة Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C. P., van Bokhoven, Hans, Brunner, Han G.
منشور في 2000

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

بواسطة 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.
منشور في 2010

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

بواسطة 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
منشور في 2011

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

بواسطة Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
الحاوية / القاعدة J Clin Immunol (2016)

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

بواسطة Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
الحاوية / القاعدة J Clin Immunol (2016)

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

بواسطة Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, OÖzge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
منشور في 2014

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

بواسطة 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
الحاوية / القاعدة Genet Med (2019)

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

بواسطة 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.
الحاوية / القاعدة Clin Genet (2020)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

بواسطة Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
الحاوية / القاعدة Hum Mutat (2015)