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Bruun, Theodora U. J.; Sidky, Sarah; Bandeira, Anabela O.; Debray, Francoise-Guillaume; Ficicioglu, Can; Goldstein, Jennifer; Joost, Kairit; Koeberl, Dwight D.; Luísa, Diogo; Nassogne, Marie-Cecile; O’Sullivan, Siobhan; Õunap, Katrin; Schulze, Andreas; van Maldergem, Lionel; Salomons, Gajja S.; Mercimek-Andrews, SaadetTreatment outcome of creatine transporter deficiency: international retrospective cohort studyView onlineSchließen
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Published in: Metabolic Brain Disease
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Girard, Muriel; Bizet, Albane A.; Lachaux, Alain; Gonzales, Emmanuel; Filhol, Emilie; Collardeau-Frachon, Sophie; Jeanpierre, Cécile; Henry, Charline; Fabre, Monique; Viremouneix, Loic; Galmiche, Louise; Debray, Dominique; Bole-Feysot, Christine; Nitschke, Patrick; Pariente, Danièle; Guettier, Catherine; Lyonnet, Stanislas; Heidet, Laurence; Bertholet, Aurelia; Jacquemin, Emmanuel; Henrion-Caude, Alexandra; Saunier, SophieDCDC2Mutations Cause Neonatal Sclerosing Cholangitis : HUMAN MUTATION : HUMAN MUTATIONView onlineSchließen
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Published in: Human Mutation
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Lausberg, Eva; Gießelmann, Sebastian; Dewulf, Joseph P.; Wiame, Elsa; Holz, Anja; Salvarinova, Ramona; van Karnebeek, Clara D.; Klemm, Patricia; Ohl, Kim; Mull, Michael; Braunschweig, Till; Weis, Joachim; Sommer, Clemens J.; Demuth, Stephanie; Haase, Claudia; Stollbrink-Peschgens, Claudia; Debray, François-Guillaume; Libioulle, Cecile; Choukair, Daniela; Oommen, Prasad T.; Borkhardt, Arndt; Surowy, Harald; Wieczorek, Dagmar; Wagner, Norbert; [...]C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammationView onlineSchließen
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Published in: Journal of Clinical Investigation
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Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; [...]HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patientsView onlineSchließen
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Published in: European Journal of Human Genetics
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Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François‐Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie‐Cécile; Sekhara, Tayeb; Van Coster, Rudy; [...]Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsyView onlineSchließen
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Published in: Molecular Genetics & Genomic Medicine
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Boussard, Charlotte; Delage, Laure; Gajardo, Tania; Kauskot, Alexandre; Batignes, Maxime; Goudin, Nicolas; Stolzenberg, Marie-Claude; Brunaud, Camille; Panikulam, Patricia; Riller, Quentin; Moya-Nilges, Maryse; Solarz, Jean; Reperant, Christelle; Durel, Béatrice; Bordet, Jean-Claude; Pellé, Olivier; Lebreton, Corinne; Magerus-Chatinet, Aude; Pirabakaran, Vithura; Vargas, Pablo; Dupichaud, Sébastien; Jeanpierre, Marie; Vinit, Angélique; Zarhrate, Mohammed; [...]DOCK11 deficiency in patients with X-linked actinopathy and autoimmunityView onlineSchließen
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Published in: Blood
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Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romée, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; [...]Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective CohortsView onlineSchließen
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Published in: Obstetrical & Gynecological Survey
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Marangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romée, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; [...]Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsView onlineSchließen
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Published in: Genetics in Medicine
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Hocini, Hakim; Wiedemann, Aurélie; Blengio, Fabiola; Lefebvre, Cécile; Cervantes-Gonzalez, Minerva; Foucat, Emile; Tisserand, Pascaline; Surenaud, Mathieu; Coléon, Séverin; Prague, Mélanie; Guillaumat, Lydia; Krief, Corinne; Fenwick, Craig; Laouénan, Cédric; Bouadma, Lila; Ghosn, Jade; Pantaleo, Giuseppe; Thiébaut, Rodolphe; Abel, Laurent; Abrous, Amal; Andrejak, Claire; Angoulvant, François; Bachelet, Delphine; Bartoli, Marie; [...]Neutrophil Activation and Immune Thrombosis Profiles Persist in Convalescent COVID-19View onlineSchließen
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Published in: Journal of Clinical Immunology
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Planchais, Cyril; Fernández, Ignacio; Bruel, Timothée; de Melo, Guilherme Dias; Prot, Matthieu; Beretta, Maxime; Guardado-Calvo, Pablo; Dufloo, Jérémy; Molinos-Albert, Luis M.; Backovic, Marija; Chiaravalli, Jeanne; Giraud, Emilie; Vesin, Benjamin; Conquet, Laurine; Grzelak, Ludivine; Planas, Delphine; Staropoli, Isabelle; Guivel-Benhassine, Florence; Hieu, Thierry; Boullé, Mikaël; Cervantes-Gonzalez, Minerva; Ungeheuer, Marie-Noëlle; Charneau, Pierre; van der Werf, Sylvie; [...]Potent human broadly SARS-CoV-2–neutralizing IgA and IgG antibodies effective against Omicron BA.1 and BA.2View onlineSchließen
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Published in: Journal of Experimental Medicine
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Gopalakrishna, Gowri; Langendam, Miranda; Scholten, Rob; Bossuyt, Patrick; Leeflang, Mariska; Noel-Storr, Anna; Thomas, James; Marshall, Iain; Wallace, Byron; Whiting, Penny; Davenport, Clare; Leeflang, Mariska; GopalaKrishna, Gowri; de Salis, Isabel; Mallett, Sue; Wolff, Robert; Whiting, Penny; Riley, Richard; Westwood, Marie; Kleinen, Jos; Collins, Gary; Reitsma, Hans; Moons, Karel; Zapf, Antonia; [...]Erratum to: Methods for evaluating medical tests and biomarkersView onlineSchließen
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Published in: Diagnostic and Prognostic Research
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Gopalakrishna, Gowri; Langendam, Miranda; Scholten, Rob; Bossuyt, Patrick; Leeflang, Mariska; Noel-Storr, Anna; Thomas, James; Marshall, Iain; Wallace, Byron; Whiting, Penny; Davenport, Clare; Leeflang, Mariska; GopalaKrishna, Gowri; de Salis, Isabel; Mallett, Sue; Wolff, Robert; Whiting, Penny; Riley, Richard; Westwood, Marie; Kleinen, Jos; Collins, Gary; Reitsma, Hans; Moons, Karel; Zapf, Antonia; [...]Methods for Evaluating Medical Tests and Biomarkers : Birmingham, UK. 19–20 July 2016 : Birmingham, UK. 19–20 July 2016View onlineSchließen
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Published in: Diagnostic and Prognostic Research
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Ouldali, Naïm; Bagheri, Haleh; Salvo, Francesco; Antona, Denise; Pariente, Antoine; Leblanc, Claire; Tebacher, Martine; Micallef, Joëlle; Levy, Corinne; Cohen, Robert; Javouhey, Etienne; Bader-Meunier, Brigitte; Ovaert, Caroline; Renolleau, Sylvain; Hentgen, Veronique; Kone-Paut, Isabelle; Deschamps, Nina; De Pontual, Loïc; Iriart, Xavier; Guen, Christelle Gras-Le; Angoulvant, Francois; Belot, Alexandre; Donzeau, Aurelie; Aridi, Layal El; [...]Correction to “Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study”View onlineSchließen
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Published in: The Lancet Regional Health - Europe
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Ouldali, Naïm; Bagheri, Haleh; Salvo, Francesco; Antona, Denise; Pariente, Antoine; Leblanc, Claire; Tebacher, Martine; Micallef, Joëlle; Levy, Corinne; Cohen, Robert; Javouhey, Etienne; Bader-Meunier, Brigitte; Ovaert, Caroline; Renolleau, Sylvain; Hentgen, Veronique; Kone-Paut, Isabelle; Deschamps, Nina; De Pontual, Loïc; Iriart, Xavier; Guen, Christelle Gras-Le; Angoulvant, François; Belot, Alexandre; Donzeau, Aurelie; El Aridi, Layal; [...]Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance studyView onlineSchließen
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Published in: The Lancet Regional Health - Europe
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Battaglini, Denise; White, Nicole M.; Premraj, Lavienraj; Wanjiru Citarella, Barbara; Merson, Laura; Robba, Chiara; Thomson, David; Cho, Sung-Min; Abel, Laurent; Abrous, Amal; Jabal, Kamal Abu; Ademnou, Manuella; Tamlihat, Younes Ait; Alameen, Aliya Mohammed; Alessi, Marta; Alex, Beatrice; Alexandre, Kévin; Ali, Adam; Alidjnou, Kazali Enagnon; Allavena, Clotilde; Allou, Nathalie; Anania, Pasquale; Andrejak, Claire; Angheben, Andrea; [...]Long-term neurological symptoms after acute COVID-19 illness requiring hospitalization in adult patients: insights from the ISARIC-COVID-19 follow-up studyView onlineSchließen
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Published in: Journal of Neurology
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Cho, Sung-Min; Premraj, Lavienraj; Battaglini, Denise; Fanning, Jonathon Paul; Suen, Jacky; Bassi, Gianluigi Li; Fraser, John; Robba, Chiara; Griffee, Matthew; Solomon, Tom; Semple, Malcolm G; Baillie, Kenneth; Sigfrid, Louise; Scott, Janet T; Citarella, Barbara Wanjiru; Merson, Laura; Arora, Rakesh C; Whitman, Glenn; Thomson, David; White, Nicole; Abel, Laurent; Abrous, Amal; Jabal, Kamal Abu; Zayyad, Hiba Abu; [...]Sex differences in post-acute neurological sequelae of SARS-CoV-2 and symptom resolution in adults after coronavirus disease 2019 hospitalization: an international multi-centre prospective observational studyView onlineSchließen
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Published in: Brain Communications
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Abdukahil, Sheryl Ann; Abe, Ryuzo; Abel, Laurent; Absil, Lara; Acker, Andrew; Adachi, Shingo; Adam, Elisabeth; Adrião, Diana; Ainscough, Kate; Hssain, Ali Ait; Tamlihat, Younes Ait; Akimoto, Takako; Al-Dabbous, Tala; Al-Fares, Abdulrahman; Al Qasim, Eman; Alalqam, Razi; Alex, Beatrice; Alexandre, Kévin; Alfoudri, Huda; Alidjnou, Kazali Enagnon; Aliudin, Jeffrey; Allavena, Clotilde; Allou, Nathalie; Alves, João; [...]COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational studyView onlineSchließen
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Published in: Infection
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Bastard, Paul; Rosen, Lindsey B.; Zhang, Qian; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Zhang, Yu; Dorgham, Karim; Philippot, Quentin; Rosain, Jérémie; Béziat, Vivien; Manry, Jérémy; Shaw, Elana; Haljasmägi, Liis; Peterson, Pärt; Lorenzo, Lazaro; Bizien, Lucy; Trouillet-Assant, Sophie; Dobbs, Kerry; de Jesus, Adriana Almeida; Belot, Alexandre; Kallaste, Anne; Catherinot, Emilie; Tandjaoui-Lambiotte, Yacine; Le Pen, Jeremie; [...]Autoantibodies against type I IFNs in patients with life-threatening COVID-19View onlineSchließen
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Published in: Science
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Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jérémie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K. D.; Hodeib, Stephanie; Korol, Cecilia; Rosain, Jérémie; Bilguvar, Kaya; Ye, Junqiang; Bolze, Alexandre; Bigio, Benedetta; Yang, Rui; Arias, Andrés Augusto; Zhou, Qinhua; Zhang, Yu; Onodi, Fanny; Korniotis, Sarantis; Karpf, Léa; Philippot, Quentin; Chbihi, Marwa; [...]Inborn errors of type I IFN immunity in patients with life-threatening COVID-19View onlineSchließen
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Published in: Science
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Wainstein, Marina; Spyrison, Nicholas; Dai, Danyang; Ghadimi, Moji; Chávez-Iñiguez, Jonathan S.; Rizo-Topete, Lilia; Citarella, Barbara Wanjiru; Merson, Laura; Pole, Jason D.; Claure-Del Granado, Rolando; Johnson, David W.; Shrapnel, Sally; Abdukahil, heryl Ann; Abdulkadir, Nurul Najmee; Abe, Ryuzo; Abel, Laurent; Abrous, Amal; Absil, Lara; Acker, Andrew; Adachi, Shingo; Adrião, Diana; Al Ageel, Saleh; Ahmed, Shakeel; Ainscough, Kate; [...]Association of Country Income Level With the Characteristics and Outcomes of Critically Ill Patients Hospitalized With Acute Kidney Injury and COVID-19View onlineSchließen
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Published in: Kidney International Reports