未登录Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick .png)
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收藏Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelClinGen听力损失专家小组对GJB2中p.Met34Thr和p.Val37Ile变体的共识解释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.; Abou Tayoun, Ahmad N.; Azaiez, Hela; Booth, Kevin T.; Smith, Richard J.; Giersch, Anne B.; Morton, Cynthia C.; Liu, Xue Z.; Tekin, Mustafa; Lu, Yu; Yuan, Huijun; Mutai, Hideki; Schimmenti, Lisa 分享 收藏 分享 收藏 Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (vol 36, pg 220, 2016)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, Sebastien; 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-Buergi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. 分享 收藏 Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyBriggs, 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, Sebastien; 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-Burgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. 分享 收藏 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationRojnueangnit, 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.; Hernandez-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 分享 收藏 分享 收藏 Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital MyopathiesMarttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan-Birsoy, Oezge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Klinge, Lars; Kolski, Hanna; Lochmueller, Hans; Magy, Laurent; Manel, Veronique; Mayer, Michele; 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; Groenholm, Mikaela; Wallgren-Pettersson, Carina 分享 收藏 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingBrownstein, Zippora; Abu-Rayyan, Amal; Karfunkel-Doron, Daphne; Sirigu, Serena; Davidov, Bella; Shohat, Mordechai; Frydman, Moshe; Houdusse, Anne; Kanaan, Moien; Avraham, Karen B. 分享 收藏 Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and MiceParzefall, 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 Hrabe; Frydman, Moshe; Brownstein, Zippora; Avraham, Karen B. 分享 收藏 The LINC complex is essential for hearingHorn, 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. 分享 收藏 Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersNagamani, Sandesh C. S.; Erez, Ayelet; Ben-Zeev, Bruria; Frydman, Moshe; Winter, Susan; Zeller, Robert; El-Khechen, Dima; Escobar, Luis; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai 分享 收藏 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern familiesBrownstein, Zippora; Friedman, Lilach M.; Shahin, Hashem; Oron-Karni, Varda; Kol, Nitzan; Abu Rayyan, Amal; 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. 分享 收藏 Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease?Nissenkorn, Andreea; Levi, Yonit Banet; Vilozni, Daphna; Berkun, Yakov; Efrati, Ori; Frydman, Moshe; Yahav, Jacob; Waldman, Dalia; Somech, Raz; Shenhod, Efrat; Menascu, Shay; Ben-Zeev, Bruria 分享 收藏 Mutations in FYCO1 Cause Autosomal-Recessive Congenital CataractsChen, 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 分享 收藏 Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51Walsh, 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. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 An autosomal recessive form of monilethrix is caused by mutations in DSG4:: Clinical overlap with localized autosomal recessive hypotrichosisZlotogorski, Abraham; Marek, Dina; Horev, Liran; Abu, Almogit; Ben-Amitai, Dan; Gerad, Liora; Ingber, Arieh; Frydman, Moshe; Reznik-Wolf, Haike; Vardy, Daniel A.; Pras, Elon 分享 收藏 
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