Search Results - Rodrigo Ambrósio Fock

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  1. 1
    Determining the frequency of morphological characteristics in a sample of Brazilian children

    Determining the frequency of morphological characteristics in a sample of Brazilian children by Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrósio Fock, Ana Beatriz Alvarez Pérez, Décio Brunoni

    Published 2017
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  2. 2
    Determining the frequency of morphological characteristics in a sample of Brazilian children

    Determining the frequency of morphological characteristics in a sample of Brazilian children by Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrósio Fock, Ana Beatriz Alvarez Pérez, Décio Brunoni

    Published 2017
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  3. 3
    Uma contribuição ao auxíılio do diagnóstico do autismo a partir do processamento de imagens para extração de medidas antropométricas

    Uma contribuição ao auxíılio do diagnóstico do autismo a partir do processamento de imagens para extração de medidas antropométricas by Samuel Portela Carvalho, Ariane Machado Lima, Helena Brentani, Décio Brunoni, Rodrigo Ambrósio Fock, Fátima Lourdes Santos Nunes

    Published 2016
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  4. 4
    TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER

    TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER by Thais Arbocese Zanolla, Eduardo Perrone, Rodrigo Ambrósio Fock, Daniela Bordini, Helena Brentani, Ana Beatriz Alvarez Pérez, Décio Brunoni

    Published 2020
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  5. 5
    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 by Michele Patricia Migliavacca, Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez, David Valle, Elizabeth Wohler, Nara Sobreira, Salmo Raskin

    Published 2023
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  6. 6
    Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

    Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region by Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Moreno, Paula Frassinetti Vasconcelos de Medeiros, Renata Moldenhauer Minillo, Débora Gusmão Melo, Chong Ae Kim, Maria Juliana R. Doriqui, Têmis Maria Félix, Rodrigo Ambrósio Fock, Denise P. Cavalcanti

    Published 2016
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  7. 7
    A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

    A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case by Claudia Ismania Samogy Costa, Elisa Varella‐Branco, Frederico Monfardini, Helen Conceição Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Pérez, Naila Cristina Vilaça Lourenço, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Carla Rosenberg, Maria Rita Passos‐Bueno

    Published 2019
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  8. 8
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy by Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Published 2022
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  9. 9
    Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

    Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) by Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida Vanessa Döederlein Schwartz, Jonas Alex Morales Saute, Victor Evangelista de Faria Ferraz, Angelina Xavier Acosta, Ney Boa‐Sorte, Domingos Alves, Tatiana Amorim, Gisele Maria Araujo Felix Adjuto, Rosemarie Elizabeth Schimidt Almeida, Flávia Resedá Brandão, Larissa Souza Mario Bueno, Maria Denise Fernandes Carvalho de Andrade, Cristina Cagliari, Maria Terezinha Cardoso, Ellaine Dóris Fernandes Carvalho, Marcela Câmara Machado Costa, Antonette S. El-Husny, Lavínia Schüler‐Faccini, Rodrigo Ambrósio Fock, Rodrigo Florêncio, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, A. S. Grumach, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena-Junior, Chong A. E. Kim, Rayana Elias Maia, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros, Nina Rosa de Castro Musolino, Marcelo Eidi Nita, Henrique Gil da Silva Nunesmaia, Jose Carlison Santos de Oliveira, Wagner José Martins Paiva, Helena Pimentel, Louise Lapagesse de Camargo Pinto, Vânia Mesquita Gadelha Prazeres, Betânia de Freitas Rodrigues Ribeiro, Erlane Marques Ribeiro, Márcia Rodrigues Jardim, Maria José Sparça Salles, Maria Teresa Vieira Sanseverino, Eliane Pereira dos Santos, Mara Lúcia Schmitz Ferreira Santos, Flávia Mori Sarti, Luiz Carlos Santana da Silva, Raquel Tavares Boy da Silva, Carlos Eduardo Steiner, Ana Beatriz Winter Tavares, Thais Bonfim Teixeira, A Vergara, Paulo Ricardo Gazzola Zen, Marcos Guimarães Zuchetti

    Published 2022
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  10. 10
    Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

    Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network by Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Baiochi, Mariane Barros Neiva, Milena Artifon, A Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, B. Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Dóris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lúcia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Marisa Ribeiro de Itapema Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Silva Zeny, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy da Silva, Rayana Elias Maia, Rodrigo Ambrósio Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vânia Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinícius Lima, Wagner José Martins Paiva, Ida Vanessa Döederlein Schwartz, Domingos Alves, Têmis Maria Félix, Ângela Melo, Adrya Rafaela da Silva Rocha, Amanda Aragão, Amanda Delfino Braccini, Amanda Maria Schmidt, Ana Mondadori dos Santos, Ana Carolina de Souza e Silva, Ana Lúcia Lei Munhoz Lima, A Scasso, Ana Sofia Oliveira, Arthur Perico, Bárbara da Silva Aniceto, Bárbara Carine Soares Pinheiro, Beatriz Ono Badaró, Beatriz Brasil Braga, Beatriz de Oliveira Chapiesk, Beatriz Pinheiro, Beatriz Pereira, Betânia de Souza Ponce, Bianca Rocha Martins, Blenda Antunes Cacique Curçino de Eça, Bruna de Souza, Brunno Busnardo Paschoalino, Bruno Lassmar Bueno Valadares, C. Oliveira, Camila Ferreira Sales, Carine Pacheco Alexandre, Carla Desengrini Girelli, Carolina Balluz, Carolina de Paiva Farias, Carolina Oliveira Vilemar, C Arrigoni, Costa Passos, Catharine Harumi, Cleber Barbieri, Daniel Prado, Daniela Monteiro, Dhallya Andressa da Silva Cruz, Eduardo de Miranda Batista, Eduardo Lázaro Martins Naves, Elaine Samara Pinheiro Mendes da Silva, E. Teixeira, Fernando Amaral, Frederico Rafael Moreira, Flávia K. Siqueira‐Souza

    Published 2024
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