Výsledky vyhledávání - Akdemir, Zeynep Hande Coban
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability Autor 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
Vydáno 2016Text -
2
Comprehensive genomic analysis of patients with disorders of cerebral cortical development Autor 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.
Vydáno 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 Autor 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.
Vydáno 2016Text