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TITLE: Maturity-onset diabetes of the young in a large Portuguese cohort  Full Text
AUTHORS: Monteiro, Silvia Santos; Santos, Tiago da Silva; Fonseca, Liliana; Assuncao, Guilherme; Lopes, Ana M.; Duarte, Diana B.; Soares, Ana Rita; Laranjeira, Francisco; Ribeiro, Isaura; Pinto, Eugenia; Rocha, Sonia; Gouveia, Sofia Barbosa; Vazquez Mosquera, Maria Eugenia; Oliveira, Maria Joao; Borges, Teresa; Cardoso, Maria Helena;
PUBLISHED: 2022, SOURCE: ACTA DIABETOLOGICA, VOLUME: 60, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Case Report: Diffuse Polymicrogyria Associated With a Novel <i>ADGRG1</i> Variant
AUTHORS: Carneiro, Fabio; Duarte, Julia; Laranjeira, Francisco ; Barbosa Gouveia, Sofia; Couce, Maria Luz; Fonseca, Maria Jose;
PUBLISHED: 2021, SOURCE: FRONTIERS IN PEDIATRICS, VOLUME: 9
INDEXED IN: Scopus WOS CrossRef
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TITLE: Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center  Full Text
AUTHORS: Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira ; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce;
PUBLISHED: 2021, SOURCE: Genes, VOLUME: 12, ISSUE: 8
INDEXED IN: CrossRef: 4