Severe Hypertriglyceridemia: A 10-Year Review in a Portuguese Hospital

por Laranjeira, Francisco S, Neves, Nuno M, Raimundo, Anabela, Horta, Alexandra Bayão
Publicado 2023

Primary Squamous Cell Carcinoma of the Renal Pelvis: A Rare Complication of Xanthogranulomatous Pyelonephritis

por Maia Neves, Nuno, Laranjeira, Francisco S, Coelho, Susana, Raimundo, Anabela, Horta, Alexandra Bayão
Publicado 2023

The Man of a Thousand Pustules: A Case About Acute Generalized Exanthematous Pustulosis

por Laranjeira, Francisco S, Nascimento, Margarida L, Rocha, Filipa, Ferreira, Ana M, Malheiro, Filipa
Publicado 2022

Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)

por Quelhas da Costa, Rita, Laranjeira, Francisco, Duarte Ribeiro, Isaura, Santos, António Filipe, Nery, Filipe
Publicado 2021

Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

por Beirão, Idalina, Cabrita, Ana, Torres, Márcia, Silva, Fernando, Aguiar, Patrício, Laranjeira, Francisco, Gomes, Ana Marta
Publicado 2017

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

por Carneiro, Fábio, Duarte, Júlia, Laranjeira, Francisco, Barbosa-Gouveia, Sofia, Couce, María-Luz, Fonseca, Maria José
Publicado 2021

Cost-Effective Control of Plant Disease When Epidemiological Knowledge Is Incomplete: Modelling Bahia Bark Scaling of Citrus

por Cunniffe, Nik J., Laranjeira, Francisco F., Neri, Franco M., DeSimone, R. Erik, Gilligan, Christopher A.
Publicado 2014

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

por Matos, Liliana, Gonçalves, Vânia, Pinto, Eugénia, Laranjeira, Francisco, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R., Pérez, Belén, Alves, Sandra
Publicado 2015

Genotype‐phenotype correlations and BH(4) estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

por Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M., Lacerda, Lúcia, Ribeiro, Márcia G.
Publicado 2019

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

por Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, d. M. Carvalho, Lilian, Lacerda, Lúcia, G. Ribeiro, Márcia
Publicado 2018

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

por Barbosa-Gouveia, Sofia, Vázquez-Mosquera, María E., González-Vioque, Emiliano, Álvarez, José V., Chans, Roi, Laranjeira, Francisco, Martins, Esmeralda, Ferreira, Ana Cristina, Avila-Alvarez, Alejandro, Couce, María L.
Publicado 2021

MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

por da Silva Santos, Tiago, Fonseca, Liliana, Santos Monteiro, Sílvia, Borges Duarte, Diana, Martins Lopes, Ana, Couto de Carvalho, André, Oliveira, Maria João, Borges, Teresa, Laranjeira, Francisco, Couce, María Luz, Cardoso, Maria Helena
Publicado 2022

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

por Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz
Publicado 2022

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

por Fernández-Marmiesse, Ana, Roca, Iria, Díaz-Flores, Felícitas, Cantarín, Verónica, Pérez-Poyato, Mª Socorro, Fontalba, Ana, Laranjeira, Francisco, Quintans, Sofia, Moldovan, Oana, Felgueroso, Blanca, Rodríguez-Pedreira, Montserrat, Simón, Rogelio, Camacho, Ana, Quijada, Pilar, Ibanez-Mico, Salvador, Domingno, Mª Rosario, Benito, Carmen, Calvo, Rocío, Pérez-Cejas, Antonia, Carrasco, Mª Llanos, Ramos, Feliciano, Couce, Mª Luz, Ruiz-Falcó, Mª Luz, Gutierrez-Solana, Luis, Martínez-Atienza, Margarita
Publicado 2019

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022