Teaching and training of human resources for genetics and genomics in Brazil
de Lima, Fernanda Teresa, de Lima, Maria Angélica de Faria Domingues, Correia, Patrícia Santana, Honjo, Rachel Sayuri, Maia, Rayana Elias, Kyosen, Sandra Obikawa, Melo, Débora Gusmão
Published in Journal of community genetics (13.08.2024)
Published in Journal of community genetics (13.08.2024)
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Journal Article
Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
Horovitz, Dafne Dain Gandelman, de Faria Domingues de Lima, Maria Angelica, Pires, Lais de Carvalho, Campos Araujo, Abelardo de Queiroz, Vargas, Fernando Regla
Published in Journal of central nervous system disease (01.01.2023)
Published in Journal of central nervous system disease (01.01.2023)
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Journal Article
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy
Andrade, Raissa Coelho, Nevado, Julián, de Faria Domingues de Lima, Maria Angélica, Saad, Tânia, Moraes, Lucia, Chimelli, Leila, Lapunzina, Pablo, Vargas, Fernando Regla
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease
Braune, Caroline Bittar, Souza, Fábio de, Nucera, Ana Paula Cassetta dos Santos, Simões, Kelma Macedo Pohlmann, Vanzan Filho, Andre Bertola, Nunes, Jean Costa, Lima, Maria Angelica de Faria Domingues de
Published in Journal of inborn errors of metabolism and screening (2023)
Published in Journal of inborn errors of metabolism and screening (2023)
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Journal Article
Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes
de Castilhos, Raphael Machado, Furtado, Gabriel Vasata, Gheno, Tailise Conte, Schaeffer, Paola, Russo, Aline, Barsottini, Orlando, Pedroso, José Luiz, Salarini, Diego Z., Vargas, Fernando Regla, Lima, Maria Angélica de Faria Domingues de, Godeiro, Clécio, Santana-da-Silva, Luiz Carlos, Toralles, Maria Betânia Pereira, Santos, Silvana, van der Linden, Hélio, Wanderley, Hector Yuri, de Medeiros, Paula Frassineti Vanconcelos, Pereira, Eliana Ternes, Ribeiro, Erlane, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Published in Cerebellum (London, England) (01.02.2014)
Published in Cerebellum (London, England) (01.02.2014)
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Journal Article
Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System (SUS)
Lima, Maria Angelica de Faria Domingues de, Horovitz, Dafne Dain Gandelman
Published in Ciência & saude coletiva (01.02.2014)
Published in Ciência & saude coletiva (01.02.2014)
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Journal Article
Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System /Contradicoes das politicas publicas voltadas para doencas raras: o exemplo do Programa de Tratamento da Osteogenese Imperfeita no SUS
de Lima, Maria Angelica de Faria Domingues, Horovitz, Dafne Dain Gandelman
Published in Ciência & saude coletiva (01.02.2014)
Published in Ciência & saude coletiva (01.02.2014)
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Journal Article
Treatment networks and associations of patients with rare diseases/Redes de tratamento e as associacoes de pacientes com doencas raras
de Lima, Maria Angelica de Faria Domingues, Gilbert, Ana Cristina Bohrer, Horovitz, Dafne Dain Gandelman
Published in Ciência & saude coletiva (01.10.2018)
Published in Ciência & saude coletiva (01.10.2018)
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Journal Article
Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System /Contradicoes das politicas publicas voltadas para doencas raras: o exemplo do Programa de Tratamento da Osteogenese Imperfeita no SUS
de Lima, Maria Angelica de Faria Domingues, Horovitz, Dafne Dain Gandelman
Published in Ciência & saude coletiva (01.02.2014)
Published in Ciência & saude coletiva (01.02.2014)
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Journal Article
Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System
de Lima, Maria Angelica de Faria Domingues, Horovitz, Dafne Dain Gandelman
Published in Ciência & saude coletiva (01.02.2014)
Published in Ciência & saude coletiva (01.02.2014)
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Journal Article
Pathogenic BAG3 Variant in Peripartum Cardiomyopathy and Significant Family History of Sudden Death
Pereira, Antonio Pedro Lima Costa, Rodrigues, Eduarda Vieira, Tassi, Eduardo Marinho, Lima, Maria Angelica de Faria Domingues de, Souza, Fabio de
Published in International journal of cardiovascular sciences (2024)
Published in International journal of cardiovascular sciences (2024)
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Journal Article
Physiotherapy and patients with osteogenesis imperfecta: an experience report
Moreira, Carmem Lia Martins, Gilbert, Ana Cristina Bohrer, Lima, Maria Angélica de Faria Domingues, Cardoso, Maria Helena Cabral de Almeida, Llerena Jr, Juan Clinton
Published in Fisioterapia em movimento (01.06.2015)
Published in Fisioterapia em movimento (01.06.2015)
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Journal Article
Neurological Phenotypes of Gene Variants: A Report of Four Novel Variants
Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas
Published in Journal of central nervous system disease (01.05.2023)
Published in Journal of central nervous system disease (01.05.2023)
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Journal Article
Determinantes da marcha independente na osteogênese imperfeita
Moreira, Carmem Lia Martins, Lima, Maria Angelica de Faria Domingues, Cardoso, Maria Helena Cabral de Almeida, Gomes Junior, Saint Clair dos Santos, Lopes, Paula Bacellar, Llerena Junior, Juan Clinton
Published in Acta ortopedica brasileira (2011)
Published in Acta ortopedica brasileira (2011)
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Journal Article