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Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant Gonzalez-Sanchez, Laura; Agudo, Ana Mei; van den Rym, Anne; Begiristain, Maria Isabel; Saizar, Alazne; de Diego, Rebeca Perez; Nozal, Pilar; Lopez-Lera, Alberto; Lopez-Trascasa, Margarita; Corvillo, Fernando Share Save
Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study Magno, Silvia; Ceccarini, Giovanni; Corvillo, Fernando; Pelosini, Caterina; Gilio, Donatella; Paoli, Melania; Fornaciari, Silvia; Pandolfo, Giuseppe; Sanchez-Iglesias, Sofia; Nozal, Pilar; Curcio, Michele; Sessa, Maria Rita; Lopez-Trascasa, Margarita; Araujo-Vilar, David; Santini, Ferruccio Share Save
Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy Corvillo, Fernando; Abel, Brent S.; Lopez-Lera, Alberto; Ceccarini, Giovanni; Magno, Silvia; Santini, Ferruccio; Araujo-Vilar, David; Brown, Rebecca J.; Nozal, Pilar; Lopez-Trascasa, Margarita Share Save
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE Drouet, Christian; Lopez-Lera, Alberto; Ghannam, Arije; Lopez-Trascasa, Margarita; Cichon, Sven; Ponard, Denise; Parsopoulou, Faidra; Grombirikova, Hana; Freiberger, Tomas; Rijavec, Matija; Veronez, Camila L.; Pesquero, Joao Bosco; Germenis, Anastasios E. Share Save
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Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant Lopez-Galvez, R.; de la Morena-Barrio, M. E.; Minano, A.; Pathak, M.; Marcos, C.; Emsley, J.; Caballero, T.; Lopez-Trascasa, M.; Vicente, V.; Corral, J.; Lopez-Lera, A. Share Save
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Immunological features of patients affected by Barraquer-Simons syndrome (vol 15, 9, 2020) Corvillo, Fernando; Ceccarini, Giovanni; Nozal, Pilar; Magno, Silvia; Pelosini, Caterina; Garrido, Sofia; Lopez-Lera, Alberto; Moraru, Manuela; Vilches, Carlos; Fornaciari, Silvia; Gabbriellini, Sabrina; Santini, Ferruccio; Araujo-Vilar, David; Lopez-Trascasa, Margarita Share Save
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies Dezfouli, Mahya; Bergstrom, Sofia; Skattum, Lillemor; Abolhassani, Hassan; Neiman, Maja; Torabi-Rahvar, Monireh; Franco Jarava, Clara; Martin-Nalda, Andrea; Ferrer Balaguer, Juana M.; Slade, Charlotte A.; Roos, Anja; Fernandez Pereira, Luis M.; Lopez-Trascasa, Margarita; Gonzalez-Granado, Luis, I; Allende-Martinez, Luis M.; Mizuno, Yumi; Yoshida, Yusuke; Friman, Vanda; Lundgren, Asa; Aghamohammadi, Asghar; Rezaei, Nima; Hernandez-Gonzalez, Manuel; von Dobeln, Ulrika; Truedsson, Lennart; Hara, Toshiro; Nonoyama, Shigeaki; Schwenk, Jochen M.; Nilsson, Peter; Hammarstrom, Lennart Share Save
International Consensus on the Use of Genetics in the Management of Hereditary Angioedema Germenis, Anastasios E.; Margaglione, Maurizio; Pesquero, Joao Bosco; Farkas, Henriette; Cichon, Sven; Csuka, Dorottya; Lera, Alberto Lopez; Rijavec, Matija; Jolles, Stephen; Szilagyi, Agnes; Trascasa, Margarita Lopez; Veronez, Camila Lopes; Drouet, Christian; Zamanakou, Maria Share Save
Immunological features of patients affected by Barraquer-Simons syndrome Corvillo, Fernando; Ceccarini, Giovanni; Nozal, Pilar; Magno, Silvia; Pelosini, Caterina; Garrido, Sofia; Lopez-Lera, Alberto; Moraru, Manuela; Vilches, Carlos; Fornaciari, Silvia; Gabbriellini, Sabrina; Santini, Ferruccio; Araujo-Vilar, David; Lopez-Trascasa, Margarita Share Save
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes Ponard, Denise; Gaboriaud, Christine; Charignon, Delphine; Ghannam, Arije; Wagenaar-Bos, Ineke G. A.; Roem, Dorina; Lopez-Lera, Alberto; Lopez-Trascasa, Margarita; Tosi, Mario; Drouet, Christian Share Save
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