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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
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Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers

Castro-Ferreira, I. ; Carmo, Rute ; Silva, Sérgio Estrela ; Corrêa, Otília ; Fernandes, Susana ; Sampaio, Susana ; Pedro, Rodrigues-Pereira ; Praça, Augusta ; Oliveira, João Paulo

JIMD Reports, Volume 40, 2018, Vol.40, p.55-62 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
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Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

Siebert, Marina ; Bock, Hugo ; Michelin-Tirelli, Kristiane ; Coelho, Janice C. ; Giugliani, Roberto ; Saraiva-Pereira, Maria Luiza

JIMD Reports – Case and Research Reports, 2012/6, 2013, Vol.9, p.7-16 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
The effect of light on growth and agar content of Gelidium pulchellum (Gelidiaceae, Rhodophyta) in culture
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The effect of light on growth and agar content of Gelidium pulchellum (Gelidiaceae, Rhodophyta) in culture

Sousa-Pinto, Isabel ; Murano, Erminio ; Coelho, Susana ; Felga, Ana ; Pereira, Rui

Sixteenth International Seaweed Symposium, p.329-338 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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