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TITLE: Understanding Hypertriglyceridemia: Integrating Genetic Insights  Full Text
AUTHORS: Alves, Mara; Laranjeira, Francisco; Correia da Silva, Georgina ;
PUBLISHED: 2024, SOURCE: GENES, VOLUME: 15, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients
AUTHORS: Jorge Diogo Da Silva; Isaura Ribeiro; Carla Caseiro; Eugénia Pinto; Sónia Rocha; Helena Ribeiro; Célia Ferreira; Elisabete Silva; Francisco Laranjeira; Nataliya Tkachenko; Lúcia Lacerda; Dulce Quelhas;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
INDEXED IN: CrossRef: 1
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TITLE: Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
AUTHORS: Barbosa Gouveia, Sofia; Eugenia Vazquez Mosquera, Maria; Gonzalez Vioque, Emiliano; Hermida Ameijeiras, Alvaro; Sanchez Pintos, Paula; Jose de Castro, Maria; Leon, Soraya Ramiro; Gil Fournier, Belen; Dominguez Gonzalez, Cristina; Camacho Salas, Ana; Negrao, Luis; Fineza, Isabel; Laranjeira, Francisco; Luz Couce, Maria;
PUBLISHED: 2022, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 11, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 5
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TITLE: MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance
AUTHORS: Santos, Tiago da Silva; Fonseca, Liliana; Monteiro, Silvia Santos; Duarte, Diana Borges; Lopes, Ana Martins; de Carvalho, Andre Couto; Oliveira, Maria Joao; Borges, Teresa; Laranjeira, Francisco; Luz Couce, Maria; Cardoso, Maria Helena;
PUBLISHED: 2022, SOURCE: ENDOCRINOLOGY DIABETES & METABOLISM, VOLUME: 5, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
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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