Výsledky vyhledávání - Sadeghpour, Azita

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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