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Rafael Graça

instituto nacional de saúde dr

5H指数
23论文数
107被引数
收录论文 12
发表时间
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis伊比利亚美洲国家的植物甾醇血症:16例新病例及表型-基因型分析
err2025-09-01
err0
PREAI
errA.C. Alves; J.R. Chora; B. Miranda; A.M. Medeiros; R. Graça; V.G. Bañares; M. Araujo; F. Trias Vilagut; C. Soler; S. Meavilla; M. J. Benitez Toledo; C.G. Volpe; X. Reyes; N. Dell'Oca; P. Martins; D. Marado; L. Vilarinho; A. Dias; A.C. Ferreira; G. Padeira; M. Casañas; D.A. González; J.M. Lozano; P. Aguiar; F.S. Gonçalves; A. Ernaga; M. Apellaniz-Ruiz; R. Rubi; N. Figueroa; N.A. Vasquez; P. Valdivielso; M. Bourbon
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High-Throughput Microscopy Characterization of Rare LDLR Variants
err2023-08-01
err5
errOAAI
errGraca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda
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Functional profiling of LDLR variants: Important evidence for variant classification
err2022-07-01
err11
PREAI
errGraca, Rafael; Alves, Ana Catarina; Zimon, Magdalena; Pepperkok, Rainer; Bourbon, Mafalda
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Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes
err2021-09-14
err6
errOAAI
errGraca, Rafael; Fernandes, Rafael; Alves, Ana Catarina; Menezes, Juliane; Romao, Luisa; Bourbon, Mafalda
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LDLR variants functional characterization: Contribution to variant classification
err2021-07-01
err13
errOAAI
errAlves, Ana Catarina; Azevedo, Silvia; Benito-Vicente, Asier; Graca, Rafael; Galicia-Garcia, Unai; Barros, Patricia; Jordan, Peter; Martin, Cesar; Bourbon, Mafalda
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FUNCTIONAL GENOMICS IN A COHORT OF FH MUTATION NEGATIVE PATIENTS
err2019-08-01
err0
PREAI
errRossi, N.; Graca, R.; Medeiros, A. M.; Abrantes, L.; Alves, A. C.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.
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FUNCTIONAL CHARACTERIZATION OF LDL RECEPTOR GENE VARIANTS FOUND IN PATIENTS WITH CLINICAL DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
err2019-08-01
err0
PREAI
errAlves, A. C.; Graca, R.; Abrantes, L.; Medeiros, A. M.; Fernandes, R.; Menezes, J.; Romao, L.; Bourbon, M.
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THE IMPORTANCE TO TRACK VARIANTS IN A GENES CAUSING RECESSIVE DISORDERS WITHIN THE FAMILY: A FH/SITOSTEROLEMIA CLINICAL CASE
err2018-08-01
err0
PREAI
errGraca, R.; Abrantes, L.; Rossi, N.; Alves, A.; Medeiros, A.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.
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IMPROVING FAMILIAL DYSLIPIDAEMIA DIAGNOSIS
err2018-08-01
err0
PREAI
errGraca, R.; Rossi, N.; Alves, A. C.; Medeiros, A.; Zimon, M.; Raush, T.; Benes, V.; Pepperkok, R.; Bourbon, M.
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STUDY OF RARE FAMILIAL MONOGENIC DYSLIPIDAEMIAS IN PORTUGAL
err2018-08-01
err0
PREAI
errAlves, A. C.; Graca, R.; Raimundo, A.; Sequeira, S.; Moldovan, O.; Lobarinhas, G.; Mansilha, H.; Duarte, S.; Gaspar, A.; Guerra, A.; Travessa, A.; Ferreira, A.; Bourbon, M.
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New insights into resistance to colistin and third-generation cephalosporins of Escherichia coli in poultry, Portugal: Novel blaCTX-M-166 and blaESAC genes
err2017-12-01
err22
PREAI
errManageiro, Vera; Clemente, Lurdes; Graca, Rafael; Correia, Ivone; Albuquerque, Teresa; Ferreira, Eugenia; Canica, Manuela
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QnrS1-and Aac(6′)-lb-cr-Producing Escherichia coil among Isolates from Animals of Different Sources: Susceptibility and Genomic Characterization
err2016-05-23
err21
errOAAI
errJones-Dias, Daniela; Manageiro, Vera; Graca, Rafael; Sampaio, Daniel A.; Albuquerque, Teresa; Themudo, Patricia; Vieira, Luis; Ferreira, Eugenia; Clemente, Lurdes; Canica, Manuela
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