檢索結果 - Akdemir, Zeynep Hande Coban
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability 由 Lodder, Elisabeth M., De Nittis, Pasquelena, Koopman, Charlotte D., Wiszniewski, Wojciech, Moura de Souza, Carolina Fischinger, Lahrouchi, Najim, Guex, Nicolas, Napolioni, Valerio, Tessadori, Federico, Beekman, Leander, Nannenberg, Eline A., Boualla, Lamiae, Blom, Nico A., de Graaff, Wim, Kamermans, Maarten, Cocciadiferro, Dario, Malerba, Natascia, Mandriani, Barbara, Akdemir, Zeynep Hande Coban, Fish, Richard J., Eldomery, Mohammad K., Ratbi, Ilham, Wilde, Arthur A.M., de Boer, Teun, Simonds, William F., Neerman-Arbez, Marguerite, Sutton, V. Reid, Kok, Fernando, Lupski, James R., Reymond, Alexandre, Bezzina, Connie R., Bakkers, Jeroen, Merla, Giuseppe
出版 2016Text -
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development 由 Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N., Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
出版 2018Text -
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Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene 由 Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Akdemir, Zeynep Hande Coban, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.
出版 2016Text