Isabel Maria Medeiros Marques
AuthID: R-00H-H5C
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TITLE: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
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TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
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TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
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TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
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TITLE: Modificação do Modelo de Dimitriadis via Nanoindentação Computacional.
AUTHORS: Caio Cesar Bezerra Carneiro; Jorge André C. Santos; Francisco de Assis Leandro Filho; Rodrigo Alves Patrício; Iramilson Maia da Silva Filho;
PUBLISHED: 2016, SOURCE: IX Congresso Nacional de Engenharia Mecânica - Anais do IX Congresso Nacional de Engenharia Mecânica
AUTHORS: Caio Cesar Bezerra Carneiro; Jorge André C. Santos; Francisco de Assis Leandro Filho; Rodrigo Alves Patrício; Iramilson Maia da Silva Filho;
PUBLISHED: 2016, SOURCE: IX Congresso Nacional de Engenharia Mecânica - Anais do IX Congresso Nacional de Engenharia Mecânica
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TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
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TITLE: Development and validation of a multiplex-PCR assay for X-linked intellectual disability Full Text
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
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TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
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TITLE: New findings of Neurospora in Europe and comparisons of diversity in temperate climates on continental scales
AUTHORS: David J Jacobson; Jeremy R Dettman; Rachel I Adams; Cornelia Boesl; Shahana Sultana; Till Roenneberg; Martha Merrow; Margarida Duarte ; Isabel Marques; Alexandra Ushakova; Patricia Carneiro ; Arnaldo Videira ; Laura Navarro Sampedro; Maria Olmedo; Luis M Corrochano; John W Taylor;
PUBLISHED: 2006, SOURCE: MYCOLOGIA, VOLUME: 98, ISSUE: 4
AUTHORS: David J Jacobson; Jeremy R Dettman; Rachel I Adams; Cornelia Boesl; Shahana Sultana; Till Roenneberg; Martha Merrow; Margarida Duarte ; Isabel Marques; Alexandra Ushakova; Patricia Carneiro ; Arnaldo Videira ; Laura Navarro Sampedro; Maria Olmedo; Luis M Corrochano; John W Taylor;
PUBLISHED: 2006, SOURCE: MYCOLOGIA, VOLUME: 98, ISSUE: 4
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TITLE: The 9.8 kDa subunit of complex I, related to bacterial Na+-translocating NADH dehydrogenases, is required for enzyme assembly and function in Neurospora crassa Full Text
AUTHORS: Marques, I; Duarte, M ; Videira, A ;
PUBLISHED: 2003, SOURCE: JOURNAL OF MOLECULAR BIOLOGY, VOLUME: 329, ISSUE: 2
AUTHORS: Marques, I; Duarte, M ; Videira, A ;
PUBLISHED: 2003, SOURCE: JOURNAL OF MOLECULAR BIOLOGY, VOLUME: 329, ISSUE: 2
