Resultados da pesquisa - Taylan, Fulya

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia Por Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya

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Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta Por Andersson, Kristofer, Malmgren, Barbro, Åström, Eva, Nordgren, Ann, Taylan, Fulya, Dahllöf, Göran

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A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins Por Bang, Benedicte, Eisfeldt, Jesper, Barbany, Gisela, Harila-Saari, Arja, Heyman, Mats, Zachariadis, Vasilios, Taylan, Fulya, Nordgren, Ann

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A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset Por Altiok, Ender, Aksoy, Figen, Perk, Yıldız, Taylan, Fulya, Kim, Peter W., Ilıkkan, Barbaros, Asal, Gülten Turkkani, Goldbach-Mansky, Raphaela, Sanal, Ozden

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Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility Por Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E., Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi

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Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants Por Frisk, Sofia, Wachtmeister, Alexandra, Laurell, Tobias, Lindstrand, Anna, Jäntti, Nina, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Tesi, Bianca, Taylan, Fulya, Nordgren, Ann

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Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6 Por Järviaho, Tekla, Bang, Benedicte, Zachariadis, Vasilios, Taylan, Fulya, Moilanen, Jukka, Möttönen, Merja, Smith, C. I. Edvard, Harila-Saari, Arja, Niinimäki, Riitta, Nordgren, Ann

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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1 Por Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann

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High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing Por Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela

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Mutations in Influenza A Virus (H5N1) and Possible Limited Spread, Turkey, 2006 Por Altiok, Ender, Taylan, Fulya, Yenen, Osman Ş., Demirkeser, Gülşah, Bozaci, Mürvet, Önel, Derya, Akcadag, Birsen, Iyisan, A. Selma, Ciblak, Meral, Bozkaya, Emel, Yuksel, Sirin, Badur, Selim

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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth Por Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann

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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 Por Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna

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A missense mutation converts the Na(+),K(+)-ATPase into an ion channel and causes therapy-resistant epilepsy Por Ygberg, Sofia, Akkuratov, Evgeny E., Howard, Rebecca J., Taylan, Fulya, Jans, Daniel C., Mahato, Dhani R., Katz, Adriana, Kinoshita, Paula F., Portal, Benjamin, Nennesmo, Inger, Lindskog, Maria, Karlish, Steven J.D., Andersson, Magnus, Lindstrand, Anna, Brismar, Hjalmar, Aperia, Anita

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia Por Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization Por Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses Por Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement Por Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Por Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M

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