অনুসন্ধান ফলাফলগুলি - Faundes, Víctor
- প্রদর্শন 1 - 13 ফলাফল এর 13
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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation অনুযায়ী Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Parraguez, María M.
প্রকাশিত 2016পাঠ্য -
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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile অনুযায়ী SANTA MARÍA, LORENA, ALIAGA, SOLANGE, FAUNDES, VÍCTOR, MORALES, PAULINA, PUGIN, ÁNGELA, CUROTTO, BIANCA, SOTO, PAULA, PEÑA, M. IGNACIA, SALAS, ISABEL, ALLIENDE, M. ANGÉLICA
প্রকাশিত 2016পাঠ্য -
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FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome অনুযায়ী Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.
প্রকাশিত 2020পাঠ্য -
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders অনুযায়ী Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth
প্রকাশিত 2018পাঠ্য -
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome অনুযায়ী Baker, Emma K., Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M., Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael J., Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
প্রকাশিত 2019পাঠ্য -
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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features অনুযায়ী Baker, Emma K., Arpone, Marta, Aliaga, Solange M., Bretherton, Lesley, Kraan, Claudine M., Bui, Minh, Slater, Howard R., Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
প্রকাশিত 2019পাঠ্য -
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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine অনুযায়ী Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth
প্রকাশিত 2021পাঠ্য -
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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome অনুযায়ী Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
প্রকাশিত 2020পাঠ্য -
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome অনুযায়ী Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth
প্রকাশিত 2020পাঠ্য -
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 অনুযায়ী Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
প্রকাশিত 2021পাঠ্য -
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Ibero–American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages অনুযায়ী Serra-Majem, Lluis, Raposo, António, Aranceta-Bartrina, Javier, Varela-Moreiras, Gregorio, Logue, Caomhan, Laviada, Hugo, Socolovsky, Susana, Pérez-Rodrigo, Carmen, Aldrete-Velasco, Jorge Antonio, Meneses Sierra, Eduardo, López-García, Rebeca, Ortiz-Andrellucchi, Adriana, Gómez-Candela, Carmen, Abreu, Rodrigo, Alexanderson, Erick, Álvarez-Álvarez, Rolando Joel, Álvarez Falcón, Ana Luisa, Anadón, Arturo, Bellisle, France, Beristain-Navarrete, Ina Alejandra, Blasco Redondo, Raquel, Bochicchio, Tommaso, Camolas, José, Cardini, Fernando G., Carocho, Márcio, Costa, Maria do Céu, Drewnowski, Adam, Durán, Samuel, Faundes, Víctor, Fernández-Condori, Roxana, García-Luna, Pedro P., Garnica, Juan Carlos, González-Gross, Marcela, La Vecchia, Carlo, Leis, Rosaura, López-Sobaler, Ana María, Madero, Miguel Agustín, Marcos, Ascensión, Mariscal Ramírez, Luis Alfonso, Martyn, Danika M., Mistura, Lorenza, Moreno Rojas, Rafael, Moreno Villares, José Manuel, Niño-Cruz, José Antonio, Oliveira, María Beatriz P. P., Palacios Gil-Antuñano, Nieves, Pérez-Castells, Lucía, Ribas-Barba, Lourdes, Rincón Pedrero, Rodolfo, Riobó, Pilar, Rivera Medina, Juan, Tinoco de Faria, Catarina, Valdés-Ramos, Roxana, Vasco, Elsa, Wac, Sandra N., Wakida, Guillermo, Wanden-Berghe, Carmina, Xóchihua Díaz, Luis, Zúñiga-Guajardo, Sergio, Pyrogianni, Vasiliki, Cunha Velho de Sousa, Sérgio
প্রকাশিত 2018পাঠ্য -
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy অনুযায়ী O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.
প্রকাশিত 2019পাঠ্য