نتائج البحث - Akdemir, Zeynep Coban

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis حسب Pehlivan, Davut, Akdemir, Zeynep Coban, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Harel, Tamar

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Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI حسب Bayram, Yavuz, Aydin, Hatip, Gambin, Tomasz, Akdemir, Zeynep Coban, Atik, Mehmed M., Karaca, Ender, Karaman, Ali, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R.

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TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice حسب Jiang, Shiming, Minter, Lindsey Cauthen, Stratton, Sabrina A., Yang, Peirong, Abbas, Hussein A., Akdemir, Zeynep Coban, Pant, Vinod, Post, Sean, Gagea, Mihai, Lee, Richard G., Lozano, Guillermina, Barton, Michelle Craig

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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis حسب Pedroza, Luis Alberto, Guerrero, Nina, Stray-Pedersen, Asbjørg, Tafur, Cristina, Macias, Roque, Muñoz, Greta, Akdemir, Zeynep Coban, Jhangiani, Shalini N., Watkin, Levi B., Chinn, Ivan K., Lupski, James R., Orange, Jordan S.

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Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy حسب Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities حسب Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Akdemir, Zeynep Coban, Bayram, Yavuz, Harms, Frederike Leonie, Meinecke, Peter, Alawi, Malik, Bacino, Carlos A., Sutton, V. Reid, Kortum, Fanny, Lupski, James. R.

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Phenotypic Expansion Illuminates Multilocus Pathogenic Variation حسب Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

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A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis حسب Dinckan, Nuriye, Du, Renqian, Akdemir, Zeynep Coban, Bayram, Yavuz, Jhiangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Boerwinkle, Eric, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Uyguner, Zehra Oya, Letra, Ariadne

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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy حسب Støve, Svein Isungset, Blenski, Marina, Stray-Pedersen, Asbjørg, Wierenga, Klaas J., Jhangiani, Shalini N., Akdemir, Zeynep Coban, Crawford, David, McTiernan, Nina, Myklebust, Line M., Purcarin, Gabriela, McNall-Knapp, Rene, Wadley, Alexandrea, Belmont, John W., Kim, Jeffrey J., Lupski, James R, Arnesen, Thomas

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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome) حسب Batzir, Nurit Assia, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily X., Holtrop, Shannon, Mizerik, Elizabeth, Moreno, Margarita Nieto, Payne, Katelyn, Raas-Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid

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Mechanisms for Complex Chromosomal Insertions حسب Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L., Magriñá, Maria A., Bacino, Carlos A., Lalani, Seema R., Breman, Amy M., Smith, Janice L., Patel, Ankita, Song, Rodger H., Bi, Weimin, Cheung, Sau Wai, Carvalho, Claudia M. B., Stankiewicz, Paweł, Lupski, James R.

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Corrigendum: Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming حسب Hirsch, Calley L., Akdemir, Zeynep Coban, Wang, Li, Jayakumaran, Gowtham, Trcka, Dan, Weiss, Alexander, Hernandez, J. Javier, Pan, Qun, Han, Hong, Xu, Xueping, Xia, Zheng, Salinger, Andrew P., Wilson, Marenda, Vizeacoumar, Frederick, Datti, Alessandro, Li, Wei, Cooney, Austin J., Barton, Michelle C., Blencowe, Benjamin J., Wrana, Jeffrey L., Dent, Sharon Y.R.

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs... حسب Liu, Jiaqi, Zhou, Yangzhong, Liu, Sen, Song, Xiaofei, Yang, Xinzhuang, Fan, Yanhui, Chen, Weisheng, Akdemir, Zeynep Coban, Yan, Zihui, Zuo, Yuzhi, Du, Renqian, Liu, Zhenlei, Yuan, Bo, Zhao, Sen, Liu, Gang, Chen, Yixin, Zhao, Yanxue, Lin, Mao, Zhu, Qiankun, Niu, Yuchen, Liu, Pengfei, Ikegawa, Shiro, Song, You-Qiang, Posey, Jennifer E., Qiu, Guixing, Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan

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Human NK cell deficiency as a result of biallelic mutations in MCM10 حسب Mace, Emily M., Paust, Silke, Conte, Matilde I., Baxley, Ryan M., Schmit, Megan M., Patil, Sagar L., Guilz, Nicole C., Mukherjee, Malini, Pezzi, Ashley E., Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Muzny, Donna M., Stray-Pedersen, Asbjørg, Bradley, Rachel E., Moody, Mo, Connor, Philip P., Heaps, Adrian G., Steward, Colin, Banerjee, Pinaki P., Gibbs, Richard A., Borowiak, Malgorzata, Lupski, James R., Jolles, Stephen, Bielinsky, Anja K., Orange, Jordan S.

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An organismal CNV mutator phenotype restricted to early human development حسب Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Akdemir, Zeynep Coban, Gelowani, Violet, Writzl, Karin, Bacino, Carlos A., Lindsay, Sarah, Withers, Marjorie, Gonzaga-Jauregui, Claudia, Wiszniewska, Joanna, Scull, Jennifer, Stankiewicz, Pawel, Jhangiani, Shalini N., Muzny, Donna M., Zhang, Feng, Chen, Ken, Gibbs, Richard A., Rautenstrauss, Bernd, Cheung, Sau Wai, Smith, Janice, Breman, Amy, Shaw, Chad A., Patel, Ankita, Hurles, Matthew E., Lupski, James R.

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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease حسب Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep Coban, Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan

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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide حسب Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay حسب Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population حسب Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency حسب Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T. J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, Caorsi, Roberta, Casanova, Jean-Laurent, Chiesa, Sabrina, Chinn, Ivan Kingyue, Dückers, Gregor, Enders, Anselm, Erichsen, Hans Christian, Forbes, Lisa R., Gambin, Tomasz, Gattorno, Marco, Karimiani, Ehsan Ghayoor, Giliani, Silvia, Gold, Michael S., Jacobsen, Eva-Maria, Jansen, Machiel H., King, Jovanka R., Laxer, Ronald M., Lupski, James R., Mace, Emily, Marcenaro, Stefania, Maroofian, Reza, Meijer, Alexander B., Niehues, Tim, Notarangelo, Luigi D., Orange, Jordan, Pannicke, Ulrich, Pearson, Chris, Picco, Paolo, Quinn, Patrick J., Schulz, Ansgar, Seeborg, Filiz, Stray-Pedersen, Asbjørg, Tawamie, Hasan, van Leeuwen, Ester M. M., Aiuti, Alessandro, Yeung, Rae, Schwarz, Klaus, Kuijpers, Taco W.

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