Cystic Fibrosis in Europe - remote measurement of outcome

Autor: Macek Milan, Mehta Gita, Mehta Anil

Publikováno v: Orphanet Journal of Rare Diseases, Vol 5, Iss Suppl 1, p P6 (2010)

Externí odkaz: https://doaj.org/article/fc48d11dd6c24925b87b89f750529b5e

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

Autor: Kasmi, Irena, Drali, Ouardia, Burghart, Sabine, Lakatos-Krepcik, Andrea, Eder, Johannes, Jaksch, Peter, Kainz, Katharina, Kallinger, Margit, Leitner, Alexander, Mozdzen, Marta, Pfleger, Andreas, Renner, Sabine, Stadlinger, Martin, Thir, Christina, Nuriyev, Emil, Boboli, Hedwige, De Wachter, Elke, Dupont, Lieven, Gohy, Sophie, Hanssens, Laurence, Knoop, Christiane, Lammertyn, Elise, Nowé, Vicky, Pirson, Jessica, Thimmesch, Matthieu, Van Braeckel, Eva, Van Hoorenbeeck, Kim, Vanderhelst, Eef, Filho, Eduardo Piacentini, Athanazio, Rodrigo Abensur, Martins, Valéria de Carvalho, Duarte, Marta Cristina, Monte, Luciana de Freitas Velloso, de Fuccio, Marcelo Bicalho, Knabben, Adriana de Siqueira Carvalho, Melloti, Roberta, Meneses, Daniela Gois, Petrova, Guergana, Tješić-Drinković, Duška, Dugac, Andrea Vukić, Bambir, Ivan, Yiallouros, Panayiotis, Bilkova, Alena, Drevinek, Pavel, Macek, Milan, Jr, Olesen, Hanne Vebert, Pressler, Tania, Fouda, Eman Mahmoud, Nasr, Samya, Weldetsadik, Abate Yeshidinber, Al-iede, Montaha, Abdrakhmanov, Olzhas, Corvol, Harriet, Lemonnier-Videau, Lydie, Abely, Michel, Piccini, Carole Bailly, Belleguic, Chantal, Bihouee, Tiphaine, Billon, Yves, Bui, Stéphanie, Camara, Boubou, Cheraud, Marie-Christine, Chiron, Raphael, Duet, Emmanuelle Coirier, Cosson, Laure, Dalphin, Marie-Laure, Boucher, Isabelle Danner, De Miranda, Sandra, Deneuville, Eric, Dubus, Jean-Christophe, Durieu, Isabelle, Epaud, Ralph, Gerardin, Michèle, Grenet, Dominique, Houdouin, Véronique, Huet, Frédéric, Reem, Kanaan, Kessler, Romain, Languepin, Jeanne, Laurans, Muriel, Leroy, Sylvie, Llerena, Cathie, Macey, Julie, Mankikian, Julie, Marguet, Christophe, Martin, Clémence, Mely, Laurent, Mittaine, Marie, Murris-Espin, Marlène, Perisson, Caroline, Prevotat, Anne, Ramel, Sophie, Rames, Cinthia, Reix, Philippe, Revillon, Marine, Reynaud-Gaubert, Martine, Richaud-Thiriez, Bénédicte, Rittie, Jean-Luc, Scalbert-Dujardin, Manuëla, Sermet-Gaudelus, Isabelle, Storni, Véronique, Tatopoulos, Aurélie, Thouvenin, Guillaume, Troussier, Françoise, Weiss, Laurence, Wizla, Nathalie, Behl, Eva-Susanne, Brinkmann, Folke, Claßen, Martin, Graepler-Mainka, Ute, Griese, Matthias, Grübl, Armin, Hammermann, Jutta, Hebestreit, Helge, Heinzmann, Andrea, Herz, Alexander, Kiefer, Alexander, Kinder, Birte, Köster, Holger, Kuhnert, Stefan, Mainz, Jochen, Mayer, Angelika, Naehrig, Susanne, Niehues, Tim, Nüßlein, Thomas, Poplawska, Krystyna, Ringshausen, Felix, Rose, Markus, Rosenecker, Josef, Ruppel, Renate, Scharschinger, Anette, Schropp, Christian, Schwarz, Carsten, Smaczny, Christina, Sommerburg, Olaf, Sutharsan, Sivagurunathan, Stolz, Simone, Thomas, Wolfgang, Wege, Sabine, Welzenbach, Britta, Wollschläger, Bettina, Diamantea, Filia, Hatziagorou, Elpis, Manika, Katerina, Cox, Des, Elnazir, Basil, Fletcher, Godfrey, Gunaratnam, Cedric, McKone, Edward F., Plant, Barry J., Cohen-Cymberknoh, Malena, Gur, Michal, Livnat, Galit, Mei-Zahav, Meir, Amato, Annalisa, Ferrari, Gianluca, Badolato, Raffaele, Poli, Piercarlo, Battistini, Fiorella, Donati, Valentina, Bignamini, Elisabetta, Folino, Anna, Carnovale, Vincenzo, Castellani, Carlo, Casciaro, Rosaria, Cimino, Giuseppe, Cipolli, Marco, Lucca, Francesca, Collura, Mirella, Ficili, Francesca, Daccò, Valeria, Gagliano, Vanessa, Pizzamiglio, Giovanna, Mencarini, Valeria, Palladino, Nicola, Leonardi, Salvatore, Rotolo, Novella, Lucanto, Maria Cristina, Quattromano, Ester, Lucidi, Vincenzina, Majo, Fabio, Alghisi, Federico, Ciciriello, Fabiana, Manca, Antonio, Leonetti, Giuseppina, Maschio, Massimo, Messore, Barbara, Pantano, Stefano, Pisi, Giovanna, Spaggiari, Cinzia, Raia, Valeria, Laezza, Caterina, Ros, Mirco, Salvatore, Donatello, Taccetti, Giovanni, Francalanci, Michela, Vitullo, Pamela, Zolin, Anna, Aleksejeva, Elina, Malakauskas, Kestutis, Misevičiene, Valdone, Charatsi, Anna-Maria, la Barrière, Hélène De, Altenburg, Josje, Bannier, Michiel, Heijerman, Harry, Janssens, Hettie, Koppelman, Gerard, van der Meer, Renske, Merkus, Peter, Nuijsink, Marianne, Terheggen, Suzanne, van der Vaart, Hester, Wesseling, Geert-Jan, de Winter, Karin, Danevska, Ivana Arnaudova, Maretti, Tatjana Jakovska, Fustik, Stojka, Dziecichowicz-Latała, Daria, Wojsyk-Banaszak, Irena, Wozniacki, Lukasz, Amorim, Adelina, Santos, Ana Sofia Araújo, Castanhinha, Susana, Gamboa, Fernanda, Silva, Teresa Reis, Gonçalves, Fabienne, Pereira, Luísa, Ciuca, Ioana, Silva, Sónia, Csilla-Enikö, Szabo, Stan, Iustina, Amelina, Elena, Boitсova, Evgeniya, Chernyavskaya, Anastasia, Gorinova, Yuliya, Krasovskiy, Stanislav, Mukhina, Maria, Sherman, Victoria, Simonova, Olga, Kondratyeva, Elena, Bérešová, Eva, Bližnáková, Nina, Kayserová, Hana, Salobir, Barbara, Šelb, Julij, Krivec, Uroš, Fernandez, Antonio José Aguilar, Fernàndez, Antonio Alvarez, García, Félix Baranda, Aparicio, Marina Blanco, Corullón, Silvia Castillo, Cortell-Aznar, Isidoro, Pérez, Inés, Colomer, Jordi Costa i, Roig, María Cols, Pecellín, Isabel Delgado, Cáceres, Layla Diab, Paredes, Carmen Luna, Gartner, Silvia, Martínez, José Ramón Gutiérrez, Labarga, Inés Herrero, Girón-Moreno, Rosa Maria, Nogueira, Esperanza Jiménez, Ferreiro, Adelaida Lamas, Neyra, Alejandro López, Castro, Enrique Blitz, Galarraga, Laura Moreno, de Vincente, Carlos Martin, Navarro, Silvia Merlos, Nieto-Royo, Rosa, Fuster, Casilda Olveira, Pastor, Maria Dolores, Pérez-Ruiz, Estela, Prados-Sánchez, Concepción, Cancelo, Isabel Ramos, de Valbuena, Marta Ruiz, Asensi, José R. Villa, Santiago, Veronica Sanz, García, Patricia Fernández, Tawfeeq, Reem Mustafa, Banki, Adrienn, Gilljam, Marita, Krantz, Christina, Lindberg, Ulrika, Lindblad, Anders, Clarenbach, Christian, Steinack, Carolin, Hage, René, Schuurmans, Macé, Fischer, Reta, Kusche, Rachel, Rochat, Isabelle, Walter, Anna-Lena, Kamalaporn, Harutai, Hamouda, Samia, Tural, Dilber Ademhan, Ozcelik, Ugur, Asfuroğlu, Pelin, Eyüboğlu, Tuğba Şişmanlar, Aslan, Ayse Tana, Bingöl, Ayşen, Çobanoğlu, Nazan, Ozcan, Gizem, Dogru, Deniz, Gökdemir, Yasemin, KÖSE, Mehmet, Pekcan, Sevgi, Cosgriff, Rebecca, Semenchuk, Julie, Naito, Yumi, Charman, Susan C., Carr, Siobhán B, Cheng, Stephanie Y., Marshall, Bruce C., Faro, Albert, Elbert, Alexander, Gutierrez, Hector H., Goss, Christopher H., Karadag, Bulent, Burgel, Pierre-Régis, Colombo, Carla, Salvatore, Marco, Padoan, Rita, Daneau, Géraldine, Harutyunyan, Satenik, Kashirskaya, Nataliya, Kirwan, Laura, Middleton, Peter G, Ruseckaite, Rasa, de Monestrol, Isabelle, Naehrlich, Lutz, Mondejar-Lopez, Pedro, Jung, Andreas, van Rens, Jacqui, Bakkeheim, Egil, Orenti, Annalisa, Zomer-van Ommen, Domenique, da Silva-Filho, Luiz Vicente RF, Fernandes, Flavia Fonseca, Zampoli, Marco, Stephenson, Anne L.

Publikováno v: In Journal of Cystic Fibrosis September 2024 23(5):815-822

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Autor: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe

Publikováno v: In Genetics in Medicine April 2023 25(4)

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Autor: Cali, Elisa, Quirin, Tania, Rocca, Clarissa, Efthymiou, Stephanie, Riva, Antonella, Marafi, Dana, Zaki, Maha S., Suri, Mohnish, Dominguez, Roberto, Elbendary, Hasnaa M., Alavi, Shahryar, Abdel-Hamid, Mohamed S., Morsy, Heba, Mau-Them, Frederic Tran, Nizon, Mathilde, Tesner, Pavel, Ryba, Lukáš, Zafar, Faisal, Rana, Nuzhat, Saadi, Nebal W., Firoozfar, Zahra, Gencpinar, Pinar, Unay, Bulent, Ustun, Canan, Bruel, Ange-Line, Coubes, Christine, Stefanich, Jennifer, Sezer, Ozlem, Agolini, Emanuele, Novelli, Antonio, Vasco, Gessica, Lettori, Donatella, Milh, Mathieu, Villard, Laurent, Zeidler, Shimriet, Opperman, Henry, Strehlow, Vincent, Issa, Mahmoud Y., El Khassab, Hebatallah, Chand, Prem, Ibrahim, Shahnaz, Nejad-Rashidi, Ali, Miryounesi, Mohammad, Larki, Pegah, Morrison, Jennifer, Cristian, Ingrid, Thiffault, Isabelle, Bertsch, Nicole L., Noh, Grace J., Pappas, John, Moran, Ellen, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Hosseini, Susan, Abbaszadegan, Mohammad Reza, Caumes, Roseline, Vissers, Lisenka E.L.M., Neshatdoust, Maedeh, Montazer, Mostafa Zohour, El Fahime, Elmostafa, Canavati, Christin, Kamal, Lara, Kanaan, Moien, Askander, Omar, Voinova, Victoria, Levchenko, Olga, Haider, Shahzhad, Halbach, Sara S., Maia, Elias Rayana, Mansoor, Salehi, Vivek, Jain, Tawde, Sanjukta, Challa, Viveka Santhosh R., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Victor, Lucas Alves, Pinero-Banos, Benito, Hague, Jennifer, Ei-Awady, Heba Ahmed, Maria de Miranda Henriques-Souza, Adelia, Cheema, Huma Arshad, Anjum, Muhammad Nadeem, Idkaidak, Sara, Alqarajeh, Firas, Atawneh, Osama, Mor-Shaked, Hagar, Harel, Tamar, Zifarelli, Giovanni, Bauer, Peter, Kok, Fernando, Kitajima, Joao Paulo, Monteiro, Fabiola, Josahkian, Juliana, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothe, Murphy, David, Neul, Jeffrey L., Mullegama, Sureni V., Begtrup, Amber, Herman, Isabella, Mitani, Tadahiro, Posey, Jennifer E., Tay, Chee Geap, Javed, Iram, Carr, Lucinda, Kanani, Farah, Beecroft, Fiona, Hane, Lee, Abdelkreem, Elsayed, Macek, Milan, Bispo, Luciana, Elmaksoud, Marwa Abd, Hashemi-Gorji, Farzad, Pehlivan, Davut, Amor, David J., Jamra, Rami Abou, Chung, Wendy K., Ghayoor, Eshan Karimiani, Campeau, Philippe, Alkuraya, Fowzan S., Pagnamenta, Alistair T., Gleeson, Joseph, Lupski, James R., Striano, Pasquale, Moreno-De-Luca, Andres, Lafontaine, Denis L.J., Houlden, Henry, Maroofian, Reza

Publikováno v: In Genetics in Medicine September 2024

Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination

Autor: Pócsi, Marianna, Fejes, Zsolt, Bene, Zsolt, Nagy, Attila, Balogh, István, Amaral, Margarida D., Macek, Milan, Jr., Nagy, Béla, Jr.

Publikováno v: In Journal of Cystic Fibrosis November 2023 22(6):1085-1092