Not logged in Share Save
Share Save
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. Share Save
Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations Perilli, Lorenzo; Negro, Simona; Carbone, Samanta; Minerva, Michele; Curcio, Maria Rosaria; Lotti, Federica; Mencarelli, Maria Antonietta; Ariani, Francesca; Renieri, Alessandra; Tomasini, Barbara; Grosso, Salvatore Share Save
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant (Oct, 10.1038/s41431-024-01706-8, 2024) Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria Share Save
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria Share Save
Share Save
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response Esposito, Martina; Minnai, Francesca; Copetti, Massimiliano; Miscio, Giuseppe; Perna, Rita; Piepoli, Ada; De Vincentis, Gabriella; Benvenuto, Mario; D'Addetta, Paola; Croci, Susanna; Baldassarri, Margherita; Bruttini, Mirella; Fallerini, Chiara; Brugnoni, Raffaella; Cavalcante, Paola; Baggi, Fulvio; Corsini, Elena Maria Grazia; Ciusani, Emilio; Andreetta, Francesca; Dragani, Tommaso A.; Fratelli, Maddalena; Carella, Massimo; Mantegazza, Renato E.; Renieri, Alessandra; Colombo, Francesca Share Save
Share Save
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia Share Save
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males Stanelle-Bertram, Stephanie; Beck, Sebastian; Mounogou, Nancy Kouassi; Schaumburg, Berfin; Stoll, Fabian; Al Jawazneh, Amirah; Schmal, Zoe; Bai, Tian; Zickler, Martin; Beythien, Georg; Becker, Kathrin; de la Roi, Madeleine; Heinrich, Fabian; Schulz, Claudia; Sauter, Martina; Krasemann, Susanne; Lange, Philine; Heinemann, Axel; van Riel, Debby; Leijten, Lonneke; Bauer, Lisa; van den Bosch, Thierry P. P.; Lopuhaa, Boaz; Busche, Tobias; Wibberg, Daniel; Schaudien, Dirk; Goldmann, Torsten; Luettohann, Anna; Ruschinski, Jenny; Jania, Hanna; Mueller, Zacharias; dos Reis, Vinicius Pinho; Krupp-Buzimkic, Vanessa; Wolff, Martin; Fallerini, Chiara; Baldassarri, Margherita; Furini, Simone; Norwood, Katrina; Kaeufer, Christopher; Schuetzenmeister, Nina; von Koeckritz-Blickwede, Maren; Schroeder, Maria; Jarczak, Dominik; Nierhaus, Axel; Welte, Tobias; Kluge, Stefan; Mchardy, Alice C.; Sommer, Frank; Kalinowski, Joern; Krauss-Etschmann, Susanne; Richter, Franziska; von der Thuesen, Jan; Baumgaertner, Wolfgang; Klingel, Karin; Ondruschka, Benjamin; Renieri, Alessandra; Gabriel, Guelsah Share Save
The Medical Community's Role in Communication Strategies during Health Crises-Perspective from European Union of Medical Specialists (UEMS) Nadareishvili, Ilia; Bazas, Theodore; Petrosillo, Nicola; Berce, Vojko; Firth, John; Mansilha, Armando; Leventer, Mihaela; Renieri, Alessandra; Zampolini, Mauro; Papalois, Vassilios Share Save
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse Denomme-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, Marta; Santos-Simarro, Fernando; Pacio-Miguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenael; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozieres, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz Share Save
Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study) Grati, Francesca Romana; Bestetti, Ilaria; de Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calo, Annapaola; Saccilotto, Donatella; Zanchetti, Sara; Celli, Paola; Guerneri, Silvana; Silipigni, Rosamaria; Cardarelli, Laura; Lippi, Elisabetta; Cavani, Simona; Malacarne, Michela; Genesio, Rita; Beltrami, Nicola; Pittalis, Maria Carla; Desiderio, Laura; Gentile, Mattia; Ficarella, Romina; Recalcati, Maria Paola; Catusi, Ilaria; Garzo, Maria; Miele, Lorena; Corti, Cecilia; Ghezzo, Sara; Bertini, Veronica; Cambi, Francesca; Valetto, Angelo; Facchinetti, Barbara; Bernardini, Laura; Capalbo, Anna; Balducci, Federica; Pelo, Elisabetta; Minuti, Barbara; Pescucci, Chiara; Giuliani, Costanza; Renieri, Alessandra; Longo, Ilaria; Tita, Rossella; Castello, Giuseppe; Casalone, Rosario; Righi, Rossana; Raso, Barbara; Civolani, Alessandro; Muzi, Maria Cristina; di Natale, Manuela; Varriale, Luigia; Gasperini, Daniela; Nuzzi, Maria Cristina; Cellamare, Angelo; Casieri, Paola; Busuito, Rosa; Ceccarini, Caterina; Cesarano, Carla; Privitera, Orsola; Melani, Daniela; Menozzi, Cristina; Falcinelli, Cristina; Calabrese, Olga; Battaglia, Paola; Tanzariello, Antonella; Stampalija, Tamara; Ardisia, Carmela; Gasparini, Paolo; Benn, Peter; Novelli, Antonio Share Save
Assessment of haptoglobin alleles in autism spectrum disorders (vol 10, 7758, 2020) Cupaioli, Francesca Anna; Mosca, Ettore; Magri, Chiara; Gennarelli, Massimo; Moscatelli, Marco; Raggi, Maria Elisabetta; Landini, Martina; Galluccio, Nadia; Villa, Laura; Bonfanti, Arianna; Renieri, Alessandra; Fallerini, Chiara; Minelli, Alessandra; Marabotti, Anna; Milanesi, Luciano; Fasano, Alessio; Mezzelani, Alessandra Share Save
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
