Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy von Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M, Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach

Volltext

Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics von Melo, Débora Gusmão, Silva, André Anjos da, Husny, Antonette Souto El, Ferraz, Victor Evangelista de Faria

Volltext

A novel nonsense mutation of the KAL1 gene (p.Trp204) in Kallmann syndrome von El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-Dos-Santos, Andrea

Volltext

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network von de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Félix, Têmis Maria

Volltext

A novel nonsense mutation of the KALI gene (p.Trp204 ) in Kallmann syndrome von Husny, Antonette Souto El, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-dos-Santos, Andrea

Volltext

Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica von Melo, Débora Gusmão, Silva, André Anjos da, Husny, Antonette Souto El, Ferraz, Victor Evangelista de Faria

Volltext

Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics von Melo, Débora Gusmão, Silva, André Anjos Da, Husny, Antonette Souto El, Ferraz, Victor Evangelista De Faria

Volltext bestellen

Additional file 4 of Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network von de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Félix, Têmis Maria

Volltext bestellen

A novel nonsense mutation of the KAL1 gene (p.Trp204) in Kallmann syndrome von El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-Dos-Santos, Andrea

Volltext