Sökresultat - "Sermet-Gaudelus, Isabelle"

Specific airway resistance according to early maternal vitamin D status during pregnancy in children aged 5 to 6 years old from the FEPED cohort (RESPIFEPED)

Gonsard, Apolline^{Aff1, IDs00431024059540_cor1}, Marquant, Fabienne, Elie, Caroline, Le Bourgeois, Muriel, Houdouin, Véronique, Delclaux, Christophe, Beydon, Nicole, Bellino, Adèle, Souberbielle, Jean-Claude, Sermet-Gaudelus, Isabelle^{Aff1, Aff7, Aff9}, Delacourt, Christophe^{Aff1, Aff7, Aff9}, Benachi, Alexandra, Hadchouel, Alice^{Aff1, Aff7, Aff9}

Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation

Castanier, Solène, Elbahnsi, Ahmad^{Aff2, Aff3}, Chevalier, Benoit, Baatallah, Nesrine, Pranke, Iwona, Berri, Lynda, Edelman, Aleksander, Sermet-Gaudelus, Isabelle, Mornon, Jean-Paul, Callebaut, Isabelle, Hinzpeter, Alexandre^{Aff1, IDs00018024054319_cor11}

Acute respiratory failure due to pulmonary exacerbation in children with cystic fibrosis admitted in a pediatric intensive care unit: outcomes and factors associated with mortality

Drummond, David^{Aff1, Aff2, Aff3}, Roy, Charlotte^{Aff1, Aff2, Aff3}, Cornet, Matthieu^{Aff4, Aff5}, Bucher, Julie^{Aff2, Aff6}, Boussaud, Véronique, Pimpec-Barthes, Françoise Le, Pontailler, Margaux^{Aff1, Aff8}, Raisky, Olivier^{Aff1, Aff8}, Lopez, Vanessa^{Aff1, Aff9}, Barbanti, Claudio^{Aff1, Aff9}, Guillemain, Romain, Renolleau, Sylvain, Grimaud, Marion^{Aff1, Aff6}, Oualha, Mehdi^{Aff1, Aff6}, de Saint Blanquat, Laure^{Aff1, Aff6}, Sermet-Gaudelus, Isabelle^{Aff1, Aff2, Aff4, IDs12931024027782_cor16}

Representation and quantification of module activity from omics data with rROMA

Najm, Matthieu^{Aff1, Aff2, Aff3}, Cornet, Matthieu^{Aff1, Aff2, Aff3}, Albergante, Luca^{Aff1, Aff2, Aff3}, Zinovyev, Andrei^{Aff1, Aff2, Aff3}, Sermet-Gaudelus, Isabelle^{Aff4, Aff5, Aff6}, Stoven, Véronique^{Aff1, Aff2, Aff3}, Calzone, Laurence^{Aff1, Aff2, Aff3}, Martignetti, Loredana^{Aff1, Aff2, Aff3, IDs4154002400331x_cor8}

First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study

Bonnel, Anne-Sophie ^{a, b, 1}, Bihouée, Tiphaine ^{c, 1}, Ribault, Mélanie ^{d, 2}, Driessen, Marine ^{e, 2}, Grèvent, David ^f, Foissac, Frantz ^{g, h, i}, Truong, Ngoc Hoa ^{g, h, i}, Benhamida, Myriam ^c, Arnouat, Baptiste ^j, Borghese, Roxana ^k, Chedevergne, Frédérique ^a, Couderc-Kohen, Laure ^l, da Silva, Jennifer ^m, Grenet, Dominique ⁿ, Houdouin, Véronique ^o, Le, Anais ^a, Marchal, Sarah ^p, Deneuville, Eric ^d, Pouradier, Delphine ^b, Rousseau, Véronique ^q, Treluyer, Jean-Marc ^{g, h, i}, Francart, Arnaud ^r, Steffann, Julie ^{k, s}, Reix, Philippe ^{t, u}, Benaboud, Sihem ^{g, h, i}, Mamzer, Marie France ^{s, v}, Ville, Yves ^{d, s}, Martin, Clémence ^{m, s, w}, Burgel, Pierre-Régis ^{m, s, w}, Sermet-Gaudelus, Isabelle ^{a, s, x, y, ⁎}

Short-term modification of breathprint by Elexacaftor/Tezacaftor/Ivacaftor in a paediatric cohort

Bardin, Emmanuelle ^{a, b, c, d}, Hunzinger, Nicolas ^c, Lamy, Elodie ^c, Roquencourt, Camille ^d, Zhou, Bingqing ^c, Tabache, Yasmine ^b, Clainche, Laurence Le ^f, Remus, Natascha ^g, Roy, Charlotte ^{a, b, h}, Devillier, Philippe ^{d, i}, Nguyen-Khoa, Thao ^{a, b, h, j}, Chedevergne, Frédérique ^b, Pontoizeau, Clément ^{h, k}, Kelly, Mairead ^{a, h}, Grassin Delyle, Stanislas ^{c, d}, Sermet-Gaudelus, Isabelle ^{a, b, h, l, ⁎}

Adenine base editing with engineered virus-like particles rescues the CFTR mutation G542X in patient-derived intestinal organoids

Nicosia, Lucia ^{1, 2}, Pranke, Iwona ^{3, 4, 10}, Latorre, Roberta V. ^{5, 10}, Murray, Joss B. ¹, Lonetti, Lisa ¹, Cavusoglu-Doran, Kader ¹, Dreano, Elise ^{3, 4}, Costello, James P. ², Carroll, Michael ², Melotti, Paola ⁶, Sorio, Claudio ⁵, Sermet-Gaudelus, Isabelle ^{3, 4, 7, 8}, Scallan, Martina F. ^{2, 11}, Harrison, Patrick T. ^{1, 9, 11, 12, ∗}

Vanzacaftor–tezacaftor–deutivacaftor versus elexacaftor–tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials

Krick, Stefanie, McCoy, Karen, Goss, Christopher, Weiner, Daniel, Billings, Joanne, Ren, Clement, Atkinson, Jeffrey, Linnemann, Rachel, Trimble, Aaron, Frederick, Carla, Liou, Theodore, Escobar, Hugo, Wang, Janice, Deschamps, Ashley, Froh, Deborah, Chmiel, James, Wurth, Mark, Yonker, Lael, Jain, Manu, Millard, Susan, Tolle, James, Filbrun, Amy, Taylor-Cousar, Jennifer, Ruiz, Fadel, Brown, Cynthia, Quick, Bryon, Brown, Perry, Kennedy, John, Ruddy, Jennifer, Shkolnik, Boris, Pancham, Krishna, DiMango, Emily, Fiel, Stanley, Mueller, Gary, Livingston, Floyd, Braun, Andrew, O'Sullivan, Brian, Dubin, Patricia, Teneback, Charlotte, Kremer, Ted, Welter, John, Hoppe, Jordana, Jain, Raksha, Calimano, Francisco, Johannes, Jimmy, Daines, Cori, Green, Deanna, Keens, Thomas, Trillo-Alvarez, Cesar, Scher, Herschel, Mermis, Joel, Morrissey, Brian, Wallace, James, Barrios, Christopher, Callison, John, Holliday, Zachary, Klingsberg, Ross, Efrati, Ori, Cohen-Cymberknoh, Malena, Prais, Dario, Azevedo, Pilar, Quintana-Gallego, Esther, Wong, Janice, Mondejar-Lopez, Pedro, Lopez Neyra, Alejandro, Amorim, Adelina, Sivam, Sheila, Asensio de la Cruz, Oscar, Waller, Michael, Forseen, Caralee, Marion, Chad, Dittrich, Anna-Maria, Lysinger, Jerimiah, Casserly, Brian, Luna, Carmen, Brown, Sarah, Singer, Jonathan, Schellhase, Dennis, Roberts, Jon, King, Christopher, Byrnes, Catherine, Ringshausen, Felix, Hebestreit, Helge, Lorenz, Michael, Ruppel, Renate, Drevinek, Pavel, Dillenhofer, Stefanie, Stahl, Mirjam, Gleiber, Wolfgang, Homola, Lukas, Naehrig, Susanne, Stehling, Florian, Sutharsan, Sivagurunathan, Fischer, Rainald, Poplawska, Krystyna, Haworth, Charles, Simmonds, Nicholas, Urquhart, Don, Duckers, Jamie, Carroll, Mary, Barry, Peter, Doe, Simon, Hilliard, Tom, MacGregor, Gordon, Patel, Neil, Withers, Nicholas, Peckham, Daniel, Ledson, Martin, Koser, Usma, Gartner, Silvia, Blitz Castro, Enrique, Sole Jover, Amparo, Cox, Desmond, McKone, Edward, Plant, Barry, Williamson, Michael, Elnazir, Basil, Barbosa, Telma, Cols Roig, Maria, Burr, Lucy, Henderson, Daniel, Middleton, Peter, Kotsimbos, Tom, De Monestrol, Isabelle, Gilljam, Marita, Lindberg, Ulrika, Schwarz, Carsten, Bode, Sebastian, Epton, Michael, Halasz, Adrien, Laki, Istvan, O'Carroll, Mark, Fortner, Christopher, Bilodeau, Lara, Lapey, Allen, Moffett, Kathryn, Jia, Shijing, Uluer, Ahmet, Sears, Edmund, Keating, Claire, Omlor, Gregory, Mehdi, Nighat, Tupayachi Ortiz, Maria Gabriela, Messore, Barbara, Lambert, Allison, Mukadam, Zubin, Egan, Marie, Wilhelm, Andrew, Reyes, Santiago, Schaeffer, David, Szepfalusi, Zsolt, Epaud, Ralph, Leroy, Sylvie, Fischer Biner, Reta, Moeller, Alexander, Salvatore, Donatello, Johnson, Larry, Gohy, Sophie, Gramegna, Andrea, Olesen, Hanne, Tissot, Adrien, Marguet, Christophe, Desai, Maya, Owens, Louisa, Kherani, Tamizan, Sands, Dorota, Bakkeheim, Egil, Tullis, Elizabeth, Chilvers, Mark, Quon, Bradley, Lands, Larry, Parkins, Michael, Tremblay, Francois, Maitra, Anirban, Staples, Heather, Elidemir, Okan, Chatziagorou, Elpis, Tirakitsoontorn, Pornchai, Grenet, Dominique, Linnane, Barry, Nicholson, John Michael, Manika, Katerina, Tatopoulos, Aurelie, Pressler, Tacjana, Bagheri-Potthoff, Azadeh, Legg, Julian, Horsley, Alexander, Lee, Timothy, Houdouin, Veronique, Ramel, Sophie, Fajac, Isabelle, Sermet-Gaudelus, Isabelle, Kamphuis, Lieke, van der Ent, Kors, Vermeulen, Francois, Chiron, Raphael, Reix, Philippe, Van Braeckel, Eva, Knoop, Christiane, Vanderhelst, Eef, Durieu, Isabelle, Bui, Stephanie, Weiss, Laurence, Le Rouzic, Olivier, van der Meer, Renske, Roukema, Jolt, Altenburg, Josje, Robinson, Philip, Wainwright, Claire, Mulrennan, Siobhain, Clements, Barry, Taccetti, Giovanni, Cipolli, Marco, Dacco, Valeria, Fabrizzi, Benedetta, Castellani, Carlo, Eber, Ernst, Appelt, Dorothea, Studnicka, Michael, Sapiejka, Ewa, Mazurek, Henryk, Engan, Mette, Sauty, Alain, Mankikian, Julie, Yonker, Lael M ^b, Vermeulen, François ^c, Linnemann, Rachel W ^e, Braun, Andrew T ⁱ, Ramsey, Bonnie ^l, Mall, Marcus A ^{m, n, o}, Taylor-Cousar, Jennifer L ^p, McKone, Edward F ^q, Floreth, Tim ^s, Michelson, Peter ^s, Sosnay, Patrick R ^s, Nair, Nitin ^s, Zahigian, Rachel ^s, Martin, Hannah ^s, Ahluwalia, Neil ^s, Lam, Anna ^s

Vanzacaftor–tezacaftor–deutivacaftor for children aged 6–11 years with cystic fibrosis (RIDGELINE Trial VX21-121-105): an analysis from a single-arm, phase 3 trial

McPhail, Gary, McCoy, Karen, Roesch, Erica, Weiner, Daniel, Milla, Carlos, Pittman, Jessica, Linnemann, Rachel, Stone, Anne, Escobar, Hugo, Chmiel, James, Ruiz, Fadel, Gaffin, Jonathan, Levy, Hara, Lahiri, Thomas, Hoppe, Jordana, Moore, Brooke, Davies, Gwyneth, Moeller, Alexander, Dittrich, Anna-Maria, Latzin, Philipp, Tirakitsoontorn, Pornchai, Dowell, Maria, Thia, Lena, Stahl, Mirjam, Stehling, Florian, DeCelie-Germana, Joan, Sermet-Gaudelus, Isabelle, Janssens, Hettie, Reix, Philippe, Robinson, Philip, Wainwright, Claire, Tai, Andrew, Svedberg, Marcus, Hoppe, Jordana E ^a, Kasi, Ajay S ^b, Pittman, Jessica E ^c, Jensen, Renee ^d, Thia, Lena P ^e, Ramsey, Bonnie ^j, Mall, Marcus A ^{k, l, m}, Taylor-Cousar, Jennifer L ⁿ, McKone, Edward F ^o, Tullis, Elizabeth ^p, Salinas, Danieli B ^q, Zhu, Jiaqiang ^q, Chen, Yih-Chieh ^q, Rodriguez-Romero, Violeta ^q, Sosnay, Patrick R ^q

Lumacaftor/Ivacaftor Population Pharmacokinetics in Pediatric Patients with Cystic Fibrosis: A First Step Toward Personalized Therapy

Bouazza, Naïm^{Aff1, Aff2, Aff3, IDs40262023013423_cor1}, Urien, Saïk^{Aff1, Aff2, Aff3}, Foissac, Frantz^{Aff1, Aff2, Aff3}, Choupeaux, Laure, Lui, Gabrielle^{Aff1, Aff4}, Froelicher Bournaud, Léo^{Aff1, Aff4}, Rouillon, Steeve, Zheng, Yi, Bardin, Emmanuelle^{Aff5, Aff6, Aff7}, Stremler, Nathalie, Bessaci, Katia, Bihouee, Tiphaine, Coirier-Duet, Emmanuelle, Marguet, Christophe, Deneuville, Eric, Laurans, Muriel, Reix, Philippe^{Aff15, Aff16}, Gerardin, Michèle, Mittaine, Marie, Epaud, Ralph, Thumerelle, Caroline, Weiss, Laurence, Berthaud, Romain^{Aff1, Aff3}, Semeraro, Michaela^{Aff1, Aff3}, Treluyer, Jean-Marc^{Aff1, Aff2, Aff3}, Benaboud, Sihem^{Aff1, Aff2, Aff4}, Sermet-Gaudelus, Isabelle^{Aff7, Aff22, Aff23}

TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR

Karri, Sabrina, Cornu, David, Serot, Claudia, Biri, Lynda, Hatton, Aurélie, Dréanot, Elise, Rullaud, Camille, Pranke, Iwona, Sermet-Gaudelus, Isabelle, Hinzpeter, Alexandre, Bidou, Laure, Namy, Olivier

The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study

Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, Nouvel, Thierry, Burgel, Pierre-Régis ^*, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, Martin, Clémence

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

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.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

Cavadias, Iphigénie^{Aff1, Aff2, Aff3, Aff4, IDs13023025036182_cor1}, Viaud, Magali^{Aff1, Aff4}, Falampin, Marie^{Aff1, Aff4}, Cheikhelard, Alaa^{Aff4, Aff5}, Gueniche, Karinne^{Aff1, Aff4}, Ouallouche, Chloé^{Aff1, Aff4}, Samara-Boustani, Dinane^{Aff1, Aff6, Aff7}, Bonnet, Damien, Bahi-Buisson, Nadia, Quartier-dit-Maire, Pierre, Hadj-Rabia, Smaïl, Heidet, Laurence, Allali, Slimane, de Lonlay, Pascale, Amiel, Jeanne, Nabbout, Rima, Moshous, Despina, Cormier-Daire, Valérie, Picard, Arnaud, Desguerre, Isabelle, Sermet-Gaudelus, Isabelle, Pinto, Graziella^{Aff1, Aff22}, Bremond-Gignac, Dominique, Ruemmele, Frank, Girard, Muriel, Abadie, Véronique, James, Syril, Harroche, Annie, Polak, Michel^{Aff1, Aff3, Aff4, Aff29, Aff30}, Da Costa, Sabrina^{Aff1, Aff4}

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Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells

Bulcaen, Mattijs, Kortleven, Phéline, Liu, Ronald B., Maule, Giulia, Dreano, Elise, Kelly, Mairead, Ensinck, Marjolein M., Thierie, Sam, Smits, Maxime, Ciciani, Matteo, Hatton, Aurelie, Chevalier, Benoit, Ramalho, Anabela S., Casadevall i Solvas, Xavier, Debyser, Zeger, Vermeulen, François, Gijsbers, Rik, Sermet-Gaudelus, Isabelle, Cereseto, Anna, Carlon, Marianne S.

Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

Castellani, Carlo, Simmonds, Nicholas J, Barben, Jürg, Addy, Charlotte, Bevan, Amanda, Burgel, Pierre-Régis, Drevinek, Pavel, Gartner, Silvia, Gramegna, Andrea, Lammertyn, Elise, Landau, Eddie (Edwina) C., Middleton, Peter G., Plant, Barry J., Smyth, Alan R., van Koningsbruggen-Rietschel, Silke, Girodon, Emmanuelle, Kashirskaya, Nataliya, Munck, Anne, Nährlich, Lutz, Raraigh, Karen, Sermet-Gaudelus, Isabelle, Sommerburg, Olaf, Southern, Kevin W.

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children

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