Early Growth and Neurologic Outcomes of Infants with Probable Congenital Zika Virus Syndrome by Moura da Silva, Antonio Augusto, Ganz, Jucelia Sousa Santos, Sousa, Patricia da Silva, Doriqui, Maria Juliana Rodvalho, Ribeiro, Marizelia Rodrigues Costa, Branco, Maria Dos Remédios Freitas Carvalho, Queiroz, Rejane Christine de Sousa, Pacheco, Maria de Jesus Torres, Vieira da Costa, Flavia Regina, Silva, Francelena de Sousa, Simões, Vanda Maria Ferreira, Pacheco, Marcos Antonio Barbosa, Lamy-Filho, Fernando, Lamy, Zeni Carvalho, Soares de Britto E Alves, Maria Teresa Seabra

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Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review by Mariath, Luiza Monteavaro, Santin, Juliana Tosetto, Frantz, Jeanine Aparecida, Doriqui, Maria Juliana Rodovalho, Schuler‐Faccini, Lavínia, Kiszewski, Ana Elisa

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

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Perthes-Like Disease Masquerading Non-Classical MPS by Souza, Carolina F.M., Siqueira, Ana Cecília, Antunes, Natália S., Horovitz, Dafne D.G., Politei, Juan, Lourenço, Charles M., Doriqui, Maria Juliana Rodovalho, Souza, Débora Lima, Galera, Marcial Francis, Abrahão, Leonardo Cury, Matos, Marcos Almeida, Mendes, Pedro Henrique Barros, Magalhães, Tatiana S.P.C

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome by Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms by Ludwig, Nataniel Floriano, Velho, Renata Voltolini, Sperb-Ludwig, Fernanda, Acosta, Angelina Xavier, Ribeiro, Erlane Marques, Kim, Chong A., Gandelman Horovitz, Dafne Dain, Boy, Raquel, Rodovalho-Doriqui, Maria Juliana, Lourenço, Charles Marques, Santos, Emerson Santana, Braulke, Thomas, Pohl, Sandra, Schwartz, Ida Vanessa D.

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Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat by Giugliani, Luciana, Van der Linder, Vanesa, Van Der Linden, Helio, Lourenço, Charles Marques, de Araújo Leão, Emília Katiane Embiruçu, Arita, Juliana Harumi, Doriqui, Maria Julia Rodovalho, Neto, Pedro Braga, de Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman, Santos, Mara Lucia, Grillo, Eugenio, da Silva, Raquel Tavares Boy, de Oliveira Abrão, Janaina Bianca, Trapp, Franciele Barbosa, Giugliani, Roberto

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