Turner syndrome and neuropsychological abnormalities: a review and case series von Guaraná, Bruna Baierle, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Diniz, Bruna Lixinski, Nunes, Maurício Rouvel, Böttcher, Ana Kalise, Rosa, Rafael Fabiano Machado, Mergener, Rafaella, Zen, Paulo Ricardo Gazzola

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A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings von Glaeser, Andressa Barreto, Diniz, Bruna Lixinski, Santos, Andressa Schneiders, Guaraná, Bruna Baierle, Muniz, Victória Feitosa, Carlotto, Bianca Soares, Everling, Eduardo Morais, Noguchi, Patrícia Yuri, Garcia, Aline Ramos, Miola, Juliana, Riegel, Mariluce, Mergener, Rafaella, Gazzola Zen, Paulo Ricardo, Machado Rosa, Rafael Fabiano

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Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis von Diniz, Bruna Lixinski, Deconte, Desirée, Gadelha, Kerolainy Alves, Glaeser, Andressa Barreto, Guaraná, Bruna Baierle, de Moura, Andreza Ávila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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

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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case von Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil von Giugliani, Roberto, de Oliveira, Bibiana Mello, Guaraná, Bruna Baierle, Tonon, Tássia, Trapp, Franciele Barbosa, da Costa, Fernando Machado, da Silva, Larissa Pozzebon, Baldo, Guilherme, Riegel-Giugliani, Mariluce, Barbosa, Fabrizio, Daher, Antoine, de Souza, Carolina Fischinger Moura

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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case von Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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