Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta by Arthur Cherem Netto Fernandes, Têmis Maria Félix

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Avaliação etiológica da deficiência mental em pacientes brasileiros by Têmis Maria Félix, Júlio C. L. Leite, Sharbel W. Maluf, Janice C. Coelho

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Imaging Findings in Osteogenesis Imperfecta by Matheus Dorigatti Soldatelli, Vanessa Döwich, Thaylla Maybe Bedinot da Conceição, Têmis Maria Félix

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Imaging Findings in Osteogenesis Imperfecta by Matheus Dorigatti Soldatelli, Vanessa Döwich, Thaylla Maybe Bedinot da Conceição, Têmis Maria Félix

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CARACTERÍSTICAS CLÍNICAS E PADRÃO DE FRATURAS NO MOMENTO DO DIAGNÓSTICO DE OSTEOGÊNESE IMPERFEITA EM CRIANÇAS by Evelise Brizola, Marina Bauer Zambrano, Bruna de Souza Pinheiro, Ana Paula Vanz, Têmis Maria Félix

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TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil by Liliane Todeschini de Souza, Thayne Woycinck Kowalski, Ana Paula Vanz, Roberto Giugliani, Têmis Maria Félix

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Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta by Andressa Colares da Costa Otavio, Mariana Vicereki Trescastro, Hilton Justino da Silva, Erissandra Gomes, Têmis Maria Félix

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Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center by Bruna Pinheiro, Marina B. Zambrano, Ana Paula Vanz, Evelise Brizola, Liliane Todeschini de Souza, Têmis Maria Félix

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Pressão de língua em crianças e adolescentes com osteogênese imperfeita by Andressa Colares da Costa Otavio, Monalise Costa Batista Berbert, Hilton Justino da Silva, Erissandra Gomes, Têmis Maria Félix

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ID247 Jornada Assistencial de Valor do RARAS (JAV RARAS): Aspectos metodológicos da análise de aderência aos PCDTs by Myrianne Barbosa, Cláudia Lorea, Camila Azevedo, Luana Lopes, Alef Almeida, Temis Felix, Gabriel Ogata, Marcelo Nita, Têmis Maria Félix

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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective by Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani

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Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic... by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

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Análise comparativa entre as metodologias de PCR metilação-específica (MSP), Southern blot (SB) e FISH utilizadas no diagnóstico genético molecular de pacientes com suspeita clínic... by Bruna Oliveira, Letícia da Cunha Veber, Têmis Maria Félix, Mariluce Riegel, Isabel Cristina Bandeira da Silva, Carla Streit, Sandra Leistner-Segal

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Etiology of early hearing loss in Brazilian children by Marina Faistauer, Alice Lang Silva, Têmis Maria Félix, Liliane Todeschini de Souza, Renata Bohn, Sady Selaimen da Costa, Letícia Petersen Schmidt Rosito

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The Minimum Data Set for Rare Diseases: Systematic Review by Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, Milena Artifon, Amanda Maria Schmidt, Victória Machado Scheibe, Domingos Alves, Têmis Maria Félix

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Does universal newborn hearing screening impact the timing of deafness treatment? by Marina Faistauer, Alice Lang Silva, Daniela de Oliveira Ruiz Dominguez, Renata Bohn, Têmis Maria Félix, Sady Selaimen da Costa, Letícia Petersen Schmidt Rosito

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Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™ by Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients by Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, Gabriela Ferraz Leal, Têmis Maria Felix, Denise Pontes Cavalcanti, Juan Clinton Llerena, Sayonara Gonzalez

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Genomic imbalances in syndromic congenital heart disease by Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett‐Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil‐da‐Silva‐Lopes

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Genomic imbalances in syndromic congenital heart disease, by Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett-Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil-da-Silva-Lopes

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