Resultados de búsqueda - Juliana Alves Josahkian

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  1. 1
    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

    Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing por Alice Brinckmann Oliveira Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Francyne Kubaski, Juliana Alves Josahkian, Roberto Giugliani

    Publicado 2021
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  2. 2
    Declínio da prevalência do HTLV-1/2 em doadores de sangue do Hemocentro Regional da Cidade de Uberaba, Estado de Minas Gerais, 1995 a 2008

    Declínio da prevalência do HTLV-1/2 em doadores de sangue do Hemocentro Regional da Cidade de Uberaba, Estado de Minas Gerais, 1995 a 2008 por Guilherme Manso de Lima, José Martins Juliano Eustáquio, Raquel Martins, Juliana Alves Josahkian, Gilberto de Araújo Pereira, Hélio Moraes‐Souza, Paulo Roberto Juliano Martins

    Publicado 2010
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  3. 3
    Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

    Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil por Bruna Lixinski Diniz, Andressa Schneiders Santos, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Cláudia Fernandes Lorea, Juliana Alves Josahkian, Janaína Huber, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

    Publicado 2020
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  4. 4
    Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

    Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions por Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima de Mari, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Diana Rojas Málaga, Roberto Giugliani

    Publicado 2021
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  5. 5
    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders por Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup

    Publicado 2024
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