609 Quantitative Evaluation of the Methylation Pattern of DMRH19 and KVDMR Regions in Patients With Apparent Epigenetic Alterations in 11p15 von Pereira, H. Soares, de Almeida Cardoso, L. Cabral, Vargas, F. Regla, Seuanez, H. Nicolas

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Genetic disorders in normally androgenized infertile men and the use of intracytoplasmic sperm injection as a way of treatment von Bonaccorsi, Antonio Carlos, Martins, Rosa Rita Santos, Vargas, Fernando Regla, Franco, Jose Gonçalves, Botler, Judy

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Xp-duplications with and without sex reversal von BAUMSTARK, A, BARBI, G, JUST, W, MAHMOUD DJALALI, GEERKENS, C, MITULLA, B, MATTFELDT, T, CABRAL DE ALMEIDA, J. C, REGLA VARGAS, F, LLERENA, J. C, VOGEL, W

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Absent tibiae-polydactyly-triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome? von Vargas, Fernando Regla, Pontes, Ricardo Lopes, Llerena Jr, Juan Clinton, de Almeida, Jose Carlos Cabral

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Rapadilino syndrome von Vargas, Fernando Regla, de Almeida, José Carlos Cabral, Llerena Jr, Juan Clinton, Reis, Dimas Fagundes

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CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report von de Almeida, José Carlos Cabral, Vargas, Fernando Regla, Barbosa-Neto, João G., Llerena Jr, Juan C.

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Autosomal dominant osteosclerosis type stanescu: The third family von Horovitz, Dafne Dain Gandelman, Neto, João Goncalves Barbosa, Boy, Raquel, Vargas, Fernando Regla, Llerena Jr, Juan Clinton, de Almeida, José Carlos Cabral

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Large language models, social demography, and hegemony: comparing authorship in human and synthetic text von Alvero, A. J., Lee, Jinsook, Regla-Vargas, Alejandra, Kizilcec, René F., Joachims, Thorsten, Antonio, Anthony Lising

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Monoolein-based nanoparticles for drug delivery to the central nervous system: A platform for lysosomal storage disorder treatment von Donida, Bruna, Tauffner, Bárbara, Raabe, Marco, Immich, Maira F., de Farias, Marcelo A., de Sá Coutinho, Diego, Machado, Andryele Zaffari, Kessler, Rejane Gus, Portugal, Rodrigo V., Bernardi, Andressa, Frozza, Rudimar, Moura, Dinara J., Poletto, Fernanda, Vargas, Carmen Regla

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Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy von Jacques, Carlos Eduardo Diaz, Guerreiro, Gilian, Lopes, Franciele Fatima, de Souza, Carolina F. Moura, Giugliani, Roberto, Vargas, Carmen Regla

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Increased oxidative damage in carriers of the germline TP53 p.R337H mutation von Macedo, Gabriel S, Lisbôa da Motta, Leonardo, Giacomazzi, Juliana, Netto, Cristina B O, Manfredini, Vanusa, Vanzin, Camila S, Vargas, Carmen Regla, Hainaut, Pierre, Klamt, Fábio, Ashton-Prolla, Patricia

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Identification of copy‐number variants in patients with overgrowth disorders von Miranda‐Alcaraz, Lucía, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Arroyo, Ignacio, Galán, Enrique, Blanquer, Aleixandre, Garcı'a‐Alix, Alfredo, Santana, Alfredo, Alonso, Almudena, Gar‐cía, Ana Patiño, Bredani, Analía, Villavicencio, Andrea, Acosta, Angelina, González, Anna María Cueto, Baldellón, Antonio, Meneses, Antonio González, Gener, Blanca, Groisman, Boris, Perando‐nes, Claudia, Olivas, Cristina, Armenta, Daniel, Elorza, Dolores, Zamora, Elena, Zambrano, Elisa, Steichen, Elisabeth, Cruz, Enrique Caro, Gómez, Enrique Galán, Román, Enriqueta, Goldschmidt, Ernesto, Marfil, Esteban, Antolín, Eugenia, Ramos, Feliciano, Grondona, Fermina López, Martínez, Francisco, Uzielli, Giovannucci, Mercado, Graciela, Cassinelli, Hamilton, Arroyo, Ignacio, Pascual, Ignacio Pascual, Rio, Ignacio Vázquez, Bueno, Inés, Sánchez, Isabel Lorda, Campistol, Jaume, Arcas, Javier, Planells, Javier García, Liria, María José Jiménez, Almeida, José Carlos Cabral, Labarta, José Ignacio, Fuster, José Luis, Gutiérrez, Juan Carlos López, López Siguero, Juan P., Lara, Julián, Arranz, Leonor, Soriano, Leandro, De Alba, Liliana, Mar‐torell, Loreto, Jurado, Luis Pérez, Lozano, M. Ferrer, Merillas, M. Jesús Alija, Pérez, María Asunción García, Segovia, Mabel, Martínez, Margarita, Tabernero, Margarita, Ramos, María Antonia, Ballesta, Maria, Guardia, M. Nieves Martínez, Artigas, Mercedes, Villanueva, Mercedes, Campo, Miguel, Rosello, Mónica, Kantaputra, Nik, Matos, Pablo Prieto, Casano, Paula, Mallada, Paula Lalaguna, Olivares, Pe‐dro, Delgado, Raquel Perez, Bernardi, Priscila, León, Rafael Camino, Villaverde, Raquel Sáez, Gracia, Ricardo, Scott, Richard, Valdez, Rita, Arteaga, Rosa, Cazorla, Rosario, Iglesias, Rosario Marín, Bronberg, Rubén, Barreiro, Santiago Conde, Kapoor, Seema, Lopez, Trinidad García, Vendrell, Teresa, Tirado, Pilar, Huertos, Alicia Ureta, Lotersztein, Vanesa, Martín, Selma Vázquez, Seidel, Verónica, Albiach, Vicente, Soler, Virgina, Cosentino, Viviana, Lapunzina, Pablo

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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder von Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, San-Martín, Esteban A, Silván, Cristina, Santos-Simarro, Fernando, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo

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Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosamin... von Jacques, Carlos Eduardo Diaz, Donida, Bruna, Mescka, Caroline P., Rodrigues, Daiane G.B., Marchetti, Desirèe P., Bitencourt, Fernanda H., Burin, Maira G., de Souza, Carolina F.M., Giugliani, Roberto, Vargas, Carmen Regla

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Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder von Schneider, A, Matte, U, Pasqualim, G, Tavares, A, Mayer, F, Martinelli, B, Ribas, G.S, Vargas, C.R, Giugliani, R, Baldo, G

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Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services von Palmero, Edenir Inez, Kalakun, Luciane, Schüler-Faccini, Lavinia, Giugliani, Roberto, Vargas, Fernando Regla, Rocha, José Cláudio C., Ashton-Prolla, Patricia

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Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients von Cardoso, Leila C A, Tenorio Castaño, Jair A, Pereira, Hanna S, Lima, Maria Angélica de F D, Dos Santos, Anna Cláudia E, de Faria, Paulo S, Ferman, Sima, Seuánez, Héctor N, Nevado, Julián B, de Almeida, José Carlos Cabral, Lapunzina, Pablo, Vargas, Fernando R

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Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis von dos Santos, Anna Cláudia Evangelista, Midleton, Sônia Regina, Fonseca, Regina Lugarinho, dos Santos, Suely Rodrigues, Llerena, Jr, Juan Clinton, Vargas, Fernando Regla

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C syndrome and omphalocele: Another example von De Almeida, José Carlos Cabral, Llerena Jr, Juan Clinton, Alonso, Maria Regina, Vargas, Fernando Regla

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