Laura Vilarinho

Ciência ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 15

Top Venues

International journal of neonatal screening

Nutrients

Molecular genetics & genomic medicine

Biomedicines

Instituto Nacional de Saude Doutor Ricardo Jorge

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Instituto Nacional de Saude Doutor Ricardo Jorge Sep 01 1981

Portugal

PhD :: Human Genetics

Publications

Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha
History of Neonatal Screening of Congenital Hypothyroidism in Portugal. International journal of neonatal screening 10 (1) (2024)
Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha
History of Neonatal Screening of Congenital Hypothyroidism in Portugal. International journal of neonatal screening 10 (1) (2024)
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. International journal of neonatal screening 10 (1) (2024)
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. International journal of neonatal screening 10 (1) (2024)
Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. International journal of neonatal screening 10 (1) (2024)
Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha
History of Neonatal Screening of Congenital Hypothyroidism in Portugal. International journal of neonatal screening 10 (1) (2024)
Carla A Lopes, Marta Duarte, Susana Prazeres, Ivone Carvalho, Laura Vilarinho, José Martinez-de-Oliveira, Edward Limbert, Manuel Carlos Lemos
Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study. Nutrients 15 (20) (2023)
Joana Tenente, Teresa Campos, Carla Vasconcelos, Helena Santos, Marisa Carvalho, Altina Ramos, Laura Vilarinho, Esmeralda Rodrigues, Elisa Leão Teles
Neonatal Glycogen Storage Disease Type IA: A Rare Presentation. Endocrine, metabolic & immune disorders drug targets (2023)
Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era. Genes 14 (8) (2023)
Patrícia Lipari Pinto, Cristina Florindo, Patrícia Janeiro, Rita Loureiro Santos, Sandra Mexia, Hugo Rocha, Isabel Tavares de Almeida, Laura Vilarinho, Ana Gaspar
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection. Nutrients 14 (20) (2022)
J Gerard Loeber, Dimitris Platis, Rolf H Zetterström, Shlomo Almashanu, Juliana R Constante, James R Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kožich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C J I Schielen
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. International journal of neonatal screening 7 (1) (2021)
Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho
Role of RNA in Molecular Diagnosis of MADD Patients. Biomedicines 9 (5) (2021)
Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses. Molecular genetics & genomic medicine 9 (3) (2021)
Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Castro-Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H Futerman, Laura Vilarinho, Sandra Alves
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient. Molecular genetics & genomic medicine 8 (11) (2020)
Fábio Barroso, Joana Correia, Anabela Bandeira, Carla Carmona, Laura Vilarinho, Manuela Ferreira Almeida, Júlio César Rocha, Esmeralda Martins
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 38 (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Laura Vilarinho