Resultados de búsqueda - Piña Aguilar, Raul E.

Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome por Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.

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Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease por Piña-Aguilar, Raul E., Vera-Loaiza, Aurea, Chacón-Camacho, Oscar F., Zenteno, Juan Carlos, Nuñez-Orozco, Lilia, Santillán-Hernández, Yuritzi

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Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency por Santillán-Hernández, Yuritzi, Almanza-Miranda, Enory, Xin, Winnie W, Goss, Kendrick, Vera-Loaiza, Aurea, Gorráez-de la Mora, María T, Piña-Aguilar, Raul E

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects por Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko

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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage por Dong, Zirui, Yan, Junhao, Xu, Fengping, Yuan, Jianying, Jiang, Hui, Wang, Huilin, Chen, Haixiao, Zhang, Lei, Ye, Lingfei, Xu, Jinjin, Shi, Yuhua, Yang, Zhenjun, Cao, Ye, Chen, Lingyun, Li, Qiaoling, Zhao, Xia, Li, Jiguang, Chen, Ao, Zhang, Wenwei, Wong, Hoi Gin, Qin, Yingying, Zhao, Han, Chen, Yuan, Li, Pei, Ma, Tao, Wang, Wen-Jing, Kwok, Yvonne K., Jiang, Yuan, Pursley, Amber N., Chung, Jacqueline P.W., Hong, Yan, Kristiansen, Karsten, Yang, Huanming, Piña-Aguilar, Raul E., Leung, Tak Yeung, Cheung, Sau Wai, Morton, Cynthia C., Choy, Kwong Wai, Chen, Zi-Jiang

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies por Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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