Kết quả tìm kiếm - Akdemir, Zeynep Coban

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice Bằng 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

lấy văn bản lấy văn bản lấy văn bản

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis Bằng 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

lấy văn bản lấy văn bản lấy văn bản

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome) Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Mechanisms for Complex Chromosomal Insertions Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Corrigendum: Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

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... Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Human NK cell deficiency as a result of biallelic mutations in MCM10 Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

An organismal CNV mutator phenotype restricted to early human development Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay Bằng 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

lấy văn bản lấy văn bản lấy văn bản

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Bằng 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

lấy văn bản lấy văn bản lấy văn bản

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency Bằng 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.

lấy văn bản lấy văn bản lấy văn bản