Torthaí cuardaigh - Akdemir, Zeynep Hande Coban

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability de réir 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

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development de réir 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.

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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 de réir 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.

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