CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy von Pinto-Mariz, Fernanda, Rodrigues Carvalho, Luciana, Prufer De Queiroz Campos Araujo, Alexandra, De Mello, Wallace, Gonçalves Ribeiro, Márcia, Cunha, Maria Do Carmo Soares Alves, Cabello, Pedro Hernan, Riederer, Ingo, Negroni, Elisa, Desguerre, Isabelle, Veras, Mariana, Yada, Erica, Allenbach, Yves, Benveniste, Olivier, Voit, Thomas, Mouly, Vincent, Silva-Barbosa, Suse Dayse, Butler-Browne, Gillian, Savino, Wilson

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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing von Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Behavioral Assessment of Central Auditory Processing in Turner Syndrome von Santos, Adriana Fernandes Duarte dos, Bazilio, Martha Marcela Matos, Frota, Silvana, Guimarães, Marilia, Ribeiro, Marcia Gonçalves

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Oral mycobiome identification in atopic dermatitis, leukemia, and HIV patients - a systematic review von Sodré, Camila Stofella, Rodrigues, Paulo Matheus Guerra, Vieira, Mayra Stambovsky, Marques Paes da Silva, Alexandre, Gonçalves, Lucio Souza, Ribeiro, Marcia Gonçalves, Carvalho Ferreira, Dennis de

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Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population von Felix, Felippe, Ribeiro, Marcia Gonçalves, Tomita, Shiro, Zalis, Mariano Gustavo

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Clinical assessment of the use of topical liquid diclofenac following laser microporation of cutaneous neurofibromas in individuals with neurofibromatosis type 1 von Oliveira, Lisa Brauer, Geller, Mauro, Cunha, Karin Soares, Santos, Alessandra, Bernacchi, Allan, Rubenstein, Allan E., Takirambudde, Sanyu, Mezitis, Spyros, de Almeida Ito Brum, Carolina, Darrigo, Luiz Guilherme, Ribeiro, Marcia Gonçalves

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Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group von Santos, Alessandra, Geller, Mauro, Mezitis, Spyros, Rubenstein, Allan E, Oliveira, Lisa, Medeiros Lima, Daniel JM, Suchmacher Neto, Mendel, Nigri, Rafael, Cunha, Karin Gonçalves Soares, Takirambudde, Sanyu, Gonçalves Ribeiro, Marcia

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Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability von Santos-Rebouças, Cíntia Barros, de Almeida, Luciana Guedes, Belet, Stefanie, Dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, da Silva, Antônio Francisco Alves, Medina-Acosta, Enrique, Dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Bahia, Paulo Roberto Valle, Pimentel, Márcia Mattos Gonçalves, Froyen, Guy

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Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies von Alves, Brenda Klemm Arci Mattos de Freitas, Araujo, Alexandra Prufer de Queiroz Campos, Santos, Flávia Nardes Dos, Ribeiro, Márcia Gonçalves

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Profile of patients assessed for cochlear implants von Barbosa, Maria Helena de Magalhães, Felix, Felippe, Ribeiro, Marcia Gonçalves, Tomita, Shiro, Pinheiro, Cintia, Baptista, Monica Machado

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Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation seque... von Bevilacqua, Jorge Alfredo, Al-Salti, Abdullah Mohammed, Al Madani, Abubaker, Alves da Fonseca, Armando, Durmus, Hacer, Chai, Josiah, Alshehri, Ali, Ribeiro, Márcia Gonçalves, Sgobbi, Paulo, Nikitin, Sergey S, Vargas, Steven, Furtado, Adriana, Thibault, Nathan, Araujo, Roberto, Daba, Nadia

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Clinical oral profile of pediatric patients with atopic dermatitis: A cross‐sectional study von Stofella Sodré, Camila, Ferreira, Dennis de Carvalho, Vieira, Mayra Stambovsky, Sampaio Cavalcante, Fernanda, Braga, Beatriz Stofel, Saintive, Simone, Abad, Eliane de Dios, Goudouris, Ekaterini, Prado, Evandro A., Gonçalves, Lucio Souza, Santos, Kátia Regina Netto, Ribeiro, Márcia Gonçalves

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High-throughput nucleotide sequencing for bacteriome studies in oral squamous cell carcinoma: a systematic review von Ramos, Ruth Tramontani, Sodré, Camila Stofella, de Sousa Rodrigues, Paulo Matheus Guerra Ribeiro, da Silva, Alexandre Marques Paes, Fuly, Milenna Silva, dos Santos, Henrique Fragoso, Gonçalves, Lucio Souza, de Carvalho Ferreira, Dennis, Ribeiro, Marcia Gonçalves

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Disease progression in Sanfilippo type B: Case series of Brazilian patients von Montenegro, Yorran Hardman Araújo, Kubaski, Francyne, Trapp, Franciele Barbosa, Riegel-Giugliani, Mariluce, Souza, Carolina Fischinger Moura de, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso-Dos-Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Vairo, Filippo Pinto E, Baldo, Guilherme, Giugliani, Roberto, Poswar, Fabiano de Oliveira

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Health‐related quality of life of Brazilian children and adolescents with benign and malignant solid tumours: A prospective cohort study during the first year after hospital admiss... von Coça, Kaliani Lima, Bergmann, Anke, Carrara de Angelis, Elisabete, Ferman, Sima, Ribeiro, Márcia Gonçalves

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Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome von Goulart, Miriam Beatriz, Vieira Neto, Eduardo, Garcia, Daniela R Ney, Guimarães, Marília Martins, de Paiva, Isaías Soares, de Ferran, Karina, Dos Santos, Nathalia Correia Krause, Barbosa, Luciana Santos, de Figueiredo, Amanda F, Ribeiro, Maria Cecília Menks, Ribeiro, Márcia Gonçalves

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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network von Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto

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Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? von Pereira, Aline Chacon, Araújo, Alexandra Prufer de Queiroz Campos, Ribeiro, Márcia Gonçalves

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Oral Squamous Cell Carcinomas and Expression of Inflammatory Markers von Ruth Tramontani Ramos, Karla Malta Ferreira, Lucio Souza Gonçalves, Luciana Armada, André Luiz da Rocha Azevedo, Teresa Cristina Ribeiro Bartholomeu dos Santos, Mayra Stambovsky Vieira, Alexandre Marques Paes Silva, Dennis de Carvalho Ferreira, Marcia Gonçalves Ribeiro

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Decompensated Chronic Heart Failure Reduces Plasma L-carnitine von Moreira da Silva Guimarães, Sheila, de Souza Cruz, Wanise Maria, de Souza Weigert, Guilherme, Scalco, Fernanda Bertão, Colafranceschi, Alexandre Siciliano, Ribeiro, Marcia Gonçalves, Boaventura, Gilson Teles

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