Torthaí cuardaigh - Sadeghpour, Azita

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report de réir Focșa, Ina Ofelia, Budișteanu, Magdalena, Burloiu, Carmen, Khan, Sheraz, Sadeghpour, Azita, Bohîlțea, Laurențiu C., Davis, Erica E., Bălgrădean, Mihaela

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome de réir Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

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Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions de réir Katsanis, Sara Huston, Minear, Mollie A, Sadeghpour, Azita, Cope, Heidi, Perilla, Yezmin, Cook-Deegan, Robert, Katsanis, Nicholas, Davis, Erica E, Angrist, Misha

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies de réir Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Davis, Erica E., Katsanis, Nicholas

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Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial de réir Voils, Corrine I, Coffman, Cynthia J, Edelman, David, Maciejewski, Matthew L, Grubber, Janet M, Sadeghpour, Azita, Cho, Alex, McKenzie, Jamiyla, Blanpain, Francoise, Scheuner, Maren, Sandelowski, Margarete, Gallagher, M Patrick, Ginsburg, Geoffrey S, Yancy, William S

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CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age de réir Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia

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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy de réir Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A., Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y., Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A., Talkowski, Michael E., Dollfus, Hélène, Kellis, Manolis, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias de réir Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Uysal, Betül, Schwarz, Niklas, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Kruer, Michael C., Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E., Katsanis, Nicholas, Corbett, Mark A., MacLennan, Alastair H., Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H., Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Casas, Kari, El Achkar, Christelle M., Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Helbig, Ingo, Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.

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