Darier disease: first molecular study of a Portuguese family

por Almeida, Andreia, Lobo, Maria de Lurdes, Moura, Cecília, Rivera, Isabel
Publicado 2019

Sweet and sour: an update on classic galactosemia

por Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Publicado 2017

ISOLATION AND MOLECULAR IDENTIFICATION OF POTENTIALLY PATHOGENIC Escherichia coli AND Campylobacter jejuni IN FERAL PIGEONS FROM AN URBAN AREA IN THE CITY OF LIMA, PERU

por CABALLERO, Moisés, RIVERA, Isabel, JARA, Luis M., ULLOA-STANOJLOVIC, Francisco M., SHIVA, Carlos
Publicado 2015

“Losing the tombola”: a case study describing the use of community consultation in designing the study protocol for a randomised controlled trial of a mental health intervention in...

por Shanks, Leslie, Moroni, Claudio, Rivera, Isabel Cristina, Price, Debbie, Clementine, Sifa Banzira, Pintaldi, Giovanni
Publicado 2015

Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions

por Caldeira-Araújo, Helena, Ramos, Ruben, Florindo, Cristina, Rivera, Isabel, Castro, Rita, Tavares de Almeida, Isabel
Publicado 2019

Demethylation of the Coding Region Triggers the Activation of the Human Testis-Specific PDHA2 Gene in Somatic Tissues

por Pinheiro, Ana, Nunes, Maria João, Milagre, Inês, Rodrigues, Elsa, Silva, Maria João, de Almeida, Isabel Tavares, Rivera, Isabel
Publicado 2012

Scedosporium apiospermum and S. prolificans mixed disseminated infection in a lung transplant recipient: An unusual case of long-term survival with combined systemic and local anti...

por Balandin, Bárbara, Aguilar, Miriam, Sánchez, Isabel, Monzón, Araceli, Rivera, Isabel, Salas, Clara, Valdivia, Miguel, Alcántara, Sara, Pérez, Aris, Ussetti, Piedad
Publicado 2016

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

por Coelho, Ana I, Trabuco, Matilde, Ramos, Ruben, Silva, Maria João, Tavares de Almeida, Isabel, Leandro, Paula, Rivera, Isabel, Vicente, João B
Publicado 2014

Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells

por Hwang, Sunyoung, Williams, Jessica F., Kneissig, Maja, Lioudyno, Maria, Rivera, Isabel, Helguera, Pablo, Busciglio, Jorge, Storchova, Zuzana, King, Megan C., Torres, Eduardo M.
Publicado 2019

IVEN: A quantitative tool to describe 3D cell position and neighbourhood reveals architectural changes in FGF4-treated preimplantation embryos

por Forsyth, Jessica E., Al-Anbaki, Ali H., de la Fuente, Roberto, Modare, Nikkinder, Perez-Cortes, Diego, Rivera, Isabel, Seaton Kelly, Rowena, Cotter, Simon, Plusa, Berenika
Publicado 2021

Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

por Pinheiro, Ana, Silva, Maria João, Pavlu-Pereira, Hana, Florindo, Cristina, Barroso, Madalena, Marques, Bárbara, Correia, Hildeberto, Oliveira, Anabela, Gaspar, Ana, Tavares de Almeida, Isabel, Rivera, Isabel
Publicado 2016

Protein Arginine Methylation Is More Prone to Inhibition by S-Adenosylhomocysteine than DNA Methylation in Vascular Endothelial Cells

por Esse, Ruben, Rocha, Monica S., Barroso, Madalena, Florindo, Cristina, Teerlink, Tom, Kok, Robert M., Smulders, Yvo M., Rivera, Isabel, Leandro, Paula, Koolwijk, Pieter, Castro, Rita, Blom, Henk J., de Almeida, Isabel Tavares
Publicado 2013

Correction: Protein Arginine Methylation Is More Prone to Inhibition by S-Adenosylhomocysteine than DNA Methylation in Vascular Endothelial Cells

por Esse, Ruben, Rocha, Monica S., Barroso, Madalena, Florindo, Cristina, Teerlink, Tom, Kok, Robert M., Smulders, Yvo M., Rivera, Isabel, Leandro, Paula, Koolwijk, Pieter, Castro, Rita, Blom, Henk J., de Almeida, Isabel Tavares
Publicado 2013

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

por Pavlu-Pereira, Hana, Silva, Maria João, Florindo, Cristina, Sequeira, Sílvia, Ferreira, Ana Cristina, Duarte, Sofia, Rodrigues, Ana Luísa, Janeiro, Patrícia, Oliveira, Anabela, Gomes, Daniel, Bandeira, Anabela, Martins, Esmeralda, Gomes, Roseli, Soares, Sérgia, Tavares de Almeida, Isabel, Vicente, João B., Rivera, Isabel
Publicado 2020

Galactokinase deficiency: lessons from the GalNet registry

por Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Publicado 2020