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

por Zanolla, Thais Arbocese, Perrone, Eduardo, Fock, Rodrigo Ambrosio, Bordini, Daniela, Brentani, Helena Paula, Perez, Ana Beatriz Alvarez, Brunoni, Decio
Publicado 2020

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

por Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo
Publicado 2023

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

por Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita
Publicado 2019

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

por 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
Publicado 2016

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

por Reis, Viviane Neri de Souza, Kitajima, João Paulo, Tahira, Ana Carolina, Feio-dos-Santos, Ana Cecília, Fock, Rodrigo Ambrósio, Lisboa, Bianca Cristina Garcia, Simões, Sérgio Nery, Krepischi, Ana C. V., Rosenberg, Carla, Lourenço, Naila Cristina, Passos-Bueno, Maria Rita, Brentani, Helena
Publicado 2017

Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023

por Izar, Maria Cristina de Oliveira, dos Santos, Raul Dias, Assad, Marcelo Heitor Vieira, Chagas, Antonio Carlos Palandri, Toledo, Alceu de Oliveira, Nogueira, Ana Cláudia Cavalcante, Souto, Ana Cristina Carneiro Fernandes, Lottenberg, Ana Maria, Chacra, Ana Paula Marte, Ferreira, Carlos Eduardo dos Santos, Lourenço, Charles Marques, Valerio, Cynthia Melissa, Cintra, Dennys Esper, Fonseca, Francisco Antonio Helfenstein, Campana, Gustavo Aguiar, Bianco, Henrique Tria, de Lima, Josivan Gomes, Castelo, Maria Helane Costa Gurgel, Scartezini, Marileia, Moretti, Miguel Antonio, Barreto, Natasha Slhessarenko Fraife, Maia, Rayana Elias, Montenegro, Renan Magalhães, Alves, Renato Jorge, Figueiredo, Roberta Marcondes Machado, Fock, Rodrigo Ambrosio, Martinez, Tânia Leme da Rocha, Giraldez, Viviane Zorzanelli Rocha
Publicado 2023

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

por van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Publicado 2022