Cation leak through the ATP1A3 pump causes spasticity and intellectual disability by Calame, Daniel G, Moreno Vadillo, Cristina, Berger, Seth, Lotze, Timothy, Shinawi, Marwan, Poupak, Javaher, Heller, Corina, Cohen, Julie, Person, Richard, Telegrafi, Aida, Phitsanuwong, Chalongchai, Fiala, Kaylene, Thiffault, Isabelle, Del Viso, Florencia, Zhou, Dihong, Fleming, Emily A, Pastinen, Tomi, Fatemi, Ali, Thomas, Sruthi, Pascual, Samuel I, Torres, Rosa J, Prior, Carmen, Gómez-González, Clara, Biskup, Saskia, Lupski, James R, Maric, Dragan, Holmgren, Miguel, Regier, Debra, Yano, Sho T

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Novel variants in the SOX11 gene: clinical description of seven new patients by Schincariol-Manhe, Beatriz, Campagnolo, Érica, Spineli-Silva, Samira, de Leeuw, Nicole, Correia-Costa, Gabriela Roldão, Pessoa, André, de Souza, Carolina Fischinger Moura, Stevens, Cathy, Javaher, Poupak, Scallet, Helena Fabbri, Mohr, Julia, Biskup, Saskia, Herkert, Johanna C., Pfundt, Rolph, Mehta, Lakshmi, Rekab, Aisha, Elloumi, Houda Zghal, Sanyoura, May, Maciel-Guerra, Andréa Trevas, Gil-da-Silva-Lopes, Vera Lúcia, dos Santos, Ana Mondadori, Vieira, Társis Paiva

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Genitopatellar syndrome, sensorineural hearing loss, and cleft palate by Bergmann, Corinna, Spranger, Susanne, Javaher, Poupak, Ptok, Martin

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EuroGentest: DNA-Based Testing for Heritable Disorders in Europe by Javaher, Poupak, Kääriäinen, Helena, Kristoffersson, Ulf, Nippert, Irmgard, Sequeiros, Jorge, Zimmern, Ron, Schmidtke, Jörg

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The wide variation of definitions of genetic testing in international recommendations, guidelines and reports by Sequeiros, Jorge, Paneque, Milena, Guimarães, Bárbara, Rantanen, Elina, Javaher, Poupak, Nippert, Irma, Schmidtke, Jörg, Kääriäainen, Helena, Kristoffersson, Ulf, Cassiman, Jean-Jacques

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease by Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Scope of definitions of genetic testing: evidence from a EuroGentest survey by Pinto-Basto, Jorge, Guimarães, Bárbara, Rantanen, Elina, Javaher, Poupak, Nippert, Irma, Cassiman, Jean-Jacques, Kääriäinen, Helena, Kristoffersson, Ulf, Schmidtke, Jörg, Sequeiros, Jorge

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