Αποτελέσματα αναζήτησης - O’Heir, Emily

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures από Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A., Bassetti, Jennifer A., Moldovan, Oana, O’Heir, Emily, Burrage, Lindsay C., Allen, Jake, Emrick, Lisa T., Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H., Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J., Umair, Muhammad, Li, Dong, Donald, Kirsten A., Superti-Furga, Andrea

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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases από Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita

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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy από Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations από Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Rush, Eric, Pitt, Geoffrey, Au, Ping Yee Billie, Shashi, Vandana

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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability από Schalk, Audrey, Cousin, Margot A., Dsouza, Nikita R., Challman, Thomas D., Wain, Karen E., Powis, Zöe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Raymond J., Lanpher, Brendan C, Kemppainen, Jennifer L., Innes, A. Micheil, Kooy, R. Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, François, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth Rosen, Achkar, Christelle Moufawad El, Park, Meredith, Hamdan, Fadi F., Michaud, Jacques L., Lewis, Ann J., Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen L.I., Brilstra, Eva H., Itzikowitz, Gina, O’Heir, Emily, Allen, Jake, Donald, Kirsten A., Korf, Bruce R., Skelton, Tammi, Thompson, Michelle L, Robin, Nathaniel H., Rudy, Natasha, Dobyns, William B., Foss, Kimberly, Zarate, Yuri A, Bosanko, Katherine A., Alembik, Yves, Durand, Benjamin, Mau-Them, Frédéric Tran, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E., McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari J., Zimmermann, Michael T., Klee, Eric W., Piton, Amélie, Gerard, Bénédicte

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