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

Por Ohry, Avi, Frydman, Moshe
Publicado em 2010

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Por Sokolov, Meirav, Brownstein, Zippora, Frydman, Moshe, Avraham, Karen B.
Publicado no J Basic Clin Physiol Pharmacol (2014)

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

Por Weitzman, Ella, Pappo, Orit, Weiss, Peretz, Frydman, Moshe, Haviv-Yadid, Yael, Ben Ari, Ziv
Publicado no World J Gastroenterol (2014)

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

Por Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
Publicado em 2008

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

Por Zafer, Emre, Meck, Jeanne, Gerrad, Liora, Pras, Elon, Frydman, Moshe, Reish, Orit, Avni, Isaac, Pras, Eran
Publicado em 2008

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

Por Pras, Eran, Levy-Nissenbaum, Etgar, Bakhan, Tangiz, Lahat, Hadas, Assia, Ehud, Geffen-Carmi, Noa, Frydman, Moshe, Goldman, Boleslaw, Pras, Elon
Publicado em 2002

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

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

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Por 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
Publicado em 2011

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

Por 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
Publicado em 2013

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

Por 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.
Publicado em 2013

The LINC complex is essential for hearing

Por 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.
Publicado em 2013

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Por 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.
Publicado em 2000

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

Por 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.
Publicado em 2010

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

Por 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
Publicado em 2011

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Por 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.
Publicado no J Clin Immunol (2016)

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

Por 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.
Publicado no J Clin Immunol (2016)

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

Por 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
Publicado em 2014

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

Por 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
Publicado no Genet Med (2019)

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

Por 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
Publicado no Hum Mutat (2015)