Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria von de Almeida Duarte, Cristiane Mendes, Piazzon, Flavia Balbo, Rocco, Isadora Salvador, de Mello, Claudia Berlim

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Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation von Bastos, Karina Lucio de Medeiros, Quaio, Caio Robledo, Lima, Fabiana Roberto, Araújo, Iana Manuelle, Araújo, Candice Alves Tavares, Piazzon, Flávia Balbo, Silva, Ismael Dale Cotrim Guerreiro da, Benevides, Gabriel Nuncio, Tannuri, Ana Cristina, Tannuri, Uenis, Azevedo, Ramiro Anthero, Kim, Chong Ae

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CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants von Nunes, Natália, Zamariolli, Malú, Dantas, Anelisa Gollo, Cola, Paula, de Agostinho Júnior, Francisco, Piazzon, Flavia Balbo, Meloni, Vera Ayres, Melaragno, Maria Isabel

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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience von Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Dias, Alexandre Torchio, Novo-Filho, Gil Monteiro, Nascimento, Amom Mendes, Montenegro, Marília Moreira, Damasceno, Jullian Gabriel, Madia, Fabrícia Andreia Rosa, da Costa, Thaís Virgínia Moura Machado, Melaragno, Maria Isabel, Kim, Chong Ae, Kulikowski, Leslie Domenici

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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome von Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici

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Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report von Scuotto, Frederico, Silva Jardim, Maria Fernanda, Piazzon, Flávia Balbo, Marcos de Moraes Albertini, Caio, Assad, Renato Samy, Fenelon, Guilherme, Cirenza, Claudio

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Allan-Herndon-Dudley syndrome in a female patient and related mechanisms von Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Piazzon, Flavia

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Pseudohipoaldosteronism Type 1: a case report supported by a literature review von Fernandes, Natália Cavalheiro Braz, Simensato, Davi Cassiano Ueda, Vizzotto, Leonardo Jordan Hansen, Haber, Rafael Santos de Argollo, Jacob, Camila Garcia Ferrari, Sanches, Amanda Salemme Orlando, Piazzon, Flavia Balbo, Agostinho Junior, Francisco, Haber, Luiza Santos de Argollo, Haber, Jesselina Francisco dos Santos

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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome von Zanardo, Évelin Aline, Piazzon, Flavia Balbo, Dutra, Roberta Lelis, Dias, Alexandre Torchio, Montenegro, Marília Moreira, Novo-Filho, Gil Monteiro, Costa, Thaís Virgínia Moura Machado, Nascimento, Amom Mendes, Kim, Chong Ae, Kulikowski, Leslie Domenici

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Cytogenomic characterization of an unexpected 17.6Mb 9p deletion associated to a 14.8Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a norm... von Meloni, Vera de Freitas Ayres, Piazzon, Flavia Balbo, Soares, Maria de Fátima de Faria, Takeno, Sylvia Satomi, Christofolini, Denise Maria, Kulikowski, Leslie Domenici, Brunoni, Decio, Melaragno, Maria Isabel

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Post-mortem cytogenomic investigations in patients with congenital malformations von Dias, Alexandre Torchio, Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Novo-Filho, Gil Monteiro, Montenegro, Marilia Moreira, Nascimento, Amom Mendes, Rocha, Mariana, Madia, Fabricia Andreia Rosa, Costa, Thais Virgínia Moura Machado, Milani, Cintia, Schultz, Regina, Gonçalves, Fernanda Toledo, Fridman, Cintia, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Kim, Chong Ae, Kulikowski, Leslie Domenici

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Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a no... von Meloni, Vera de Freitas Ayres, Piazzon, Flavia Balbo, Soares, Maria de Fátima de Faria, Takeno, Sylvia Satomi, Christofolini, Denise Maria, Kulikowski, Leslie Domenici, Brunoni, Decio, Melaragno, Maria Isabel

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Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report von Scuotto, Frederico, Silva Jardim, Maria Fernanda, Piazzon, Flávia Balbo, Marcos de Moraes Albertini, Caio, Assad, Renato Samy, Fenelon, Guilherme, Cirenza, Claudio

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