Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD

ανά Morais, Sara, Bastos-Ferreira, Rita, Sequeiros, Jorge, Alonso, Isabel
Τόπος έκδοσης Neurol Genet (2016)

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

ανά Pereira, Maria da Conceição, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel
Τόπος έκδοσης ASN Neuro (2016)

Parkin truncating variants result in a loss-of-function phenotype

ανά Santos, Mariana, Morais, Sara, Pereira, Conceição, Sequeiros, Jorge, Alonso, Isabel
Τόπος έκδοσης Sci Rep (2019)

Efficacy and Safety of Direct-Acting Oral Anticoagulants Use in Acute Portal Vein Thrombosis Unrelated to Cirrhosis

ανά Nery, Filipe, Valadares, Diana, Morais, Sara, Gomes, Manuel Teixeira, De Gottardi, Andrea
Τόπος έκδοσης Gastroenterology Res (2017)

Neonatal Hemophilia: A Rare Presentation

ανά Ferreira, Nuno, Proença, Elisa, Godinho, Cristina, Oliveira, Dulce, Guedes, Ana, Morais, Sara, Carvalho, Carmen
Τόπος έκδοσης Pediatr Rep (2015)

Circulating Endothelial Cells in Patients with Venous Thromboembolism and Myeloproliferative Neoplasms

ανά Torres, Cláudia, Fonseca, Ana Mafalda, Leander, Magdalena, Matos, Rui, Morais, Sara, Campos, Manuel, Lima, Margarida
Έκδοση 2013

Status and contents of physical activity recommendations in European Union countries: a systematic comparative analysis

ανά Gelius, Peter, Tcymbal, Antonina, Abu-Omar, Karim, Mendes, Romeu, Tribuzi Morais, Sara, Whiting, Stephen, Breda, Joao
Τόπος έκδοσης BMJ Open (2020)

Long-Term Follow-Up of a Portuguese Single-Centre Cohort of Persons with Haemophilia and Hepatitis C Virus Infection

ανά Pereira Guedes, Tiago, Garrido, Mónica, Kuttner Magalhães, Ricardo, Moreira, Teresa, Rocha, Marta, Maia, Luís, Manuel Ferreira, José, Morais, Sara, Pedroto, Isabel
Τόπος έκδοσης GE Port J Gastroenterol (2021)

Aggressive Neuroblastoma in a Pediatric Patient with Severe Hemophilia A

ανά Costa, Lidia, Couto, Maria Eduarda, Moutinho, Juliana, Ferreira, Ana Maia, Costa, Emilia, Roncon, Susana, Santos, Luisa Lopes, Cruz, Eugenia, Morais, Sara
Τόπος έκδοσης Pediatr Rep (2021)

Blood transfusion after primary total knee arthroplasty can be significantly minimised through a multimodal blood-loss prevention approach

ανά Moráis, Sara, Ortega-Andreu, Miguel, Rodríguez-Merchán, Emerito Carlos, Padilla-Eguiluz, Norma G., Pérez-Chrzanowska, Hanna, Figueredo-Zalve, Reyes, Gómez-Barrena, Enrique
Έκδοση 2013

Bulk pH and Carbon Source Are Key Factors for Calcium Phosphate Granulation

ανά Cunha, Jorge Ricardo, Morais, Sara, Silva, Joana C., van der Weijden, Renata D., Hernández Leal, Lucía, Zeeman, Grietje, Buisman, Cees J. N.
Τόπος έκδοσης Environ Sci Technol (2019)

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

ανά Morais, Sara, Raymond, Laure, Mairey, Mathilde, Coutinho, Paula, Brandão, Eva, Ribeiro, Paula, Loureiro, José Leal, Sequeiros, Jorge, Brice, Alexis, Alonso, Isabel, Stevanin, Giovanni
Τόπος έκδοσης Eur J Hum Genet (2017)

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

ανά Morais, Sara, Oliveira, Jorge, Lau, Catarina, Pereira, Mónica, Gonçalves, Marta, Monteiro, Catarina, Gonçalves, Ana Rita, Matos, Rui, Sampaio, Marco, Cruz, Eugénia, Freitas, Inês, Santos, Rosário, Lima, Margarida
Τόπος έκδοσης PLoS One (2020)

3,4-Methylenedioxypyrovalerone (MDPV) Sensing Based on Electropolymerized Molecularly Imprinted Polymers on Silver Nanoparticles and Carboxylated Multi-Walled Carbon Nanotubes

ανά Couto, Rosa A. S., Coelho, Constantino, Mounssef, Bassim, Morais, Sara F. de A., Lima, Camila D., dos Santos, Wallans T. P., Carvalho, Félix, Rodrigues, Cecília M. P., Braga, Ataualpa A. C., Gonçalves, Luís Moreira, Quinaz, M. Beatriz
Τόπος έκδοσης Nanomaterials (Basel) (2021)

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

ανά Bastida, Jose María, Morais, Sara, Palma-Barqueros, Veronica, Benito, Rocio, Bermejo, Nuria, Karkucak, Mutlu, Trapero-Marugan, Maria, Bohdan, Natalia, Pereira, Mónica, Marin-Quilez, Ana, Oliveira, Jorge, Yucel, Yusuf, Santos, Rosario, Padilla, Jose, Janusz, Kamila, Lau, Catarina, Martin-Izquierdo, Marta, Couto, Eduarda, Francisco Ruiz-Pividal, Juan, Vicente, Vicente, Hernández-Rivas, Jesus Maria, González-Porras, Jose Ramon, Luisa Lozano, Maria, Lima, Margarida, Rivera, Jose
Τόπος έκδοσης Ann Med (2019)

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

ανά Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni
Τόπος έκδοσης Neurogenetics (2021)

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

ανά Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M., Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L., Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni
Τόπος έκδοσης Brain (2015)

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

ανά Sims, Matthew C., Mayer, Louisa, Collins, Janine H., Bariana, Tadbir K., Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Denis, Kollipara, Laxmikanth, Burden, Frances S., Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William J., Bahou, Wadie F., Bury, Loredana, Chalmers, Elizabeth, Da Silva, Rachael, De Candia, Erica, Deevi, Sri V. V., Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andreas, Gresele, Paolo, Hart, Dan, Hurtaud, Marie-Françoise, Kelly, Anne M., Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry, Leinøe, Eva B., Mapeta, Rutendo, McKinney, Harriet, Michelson, Alan D., Morais, Sara, Nugent, Diane, Papadia, Sofia, Park, Soo J., Pasi, John, Podda, Gian Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan C., Tait, Robert C., Turro, Ernest, Wu, John K. M., Zieger, Barbara, Kuijpers, Taco W., Whetton, Anthony D., Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy N., Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem H., Favier, Remi, Guerrero, Jose A.
Τόπος έκδοσης Blood (2020)