المؤلفون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine

المساهمون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine

مصطلحات موضوعية: monogenic IBD, next generation sequencing, very early onset IBD

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32895718; info:eu-repo/semantics/altIdentifier/wos/WOS:000637044600020; volume:15; issue:3; firstpage:517; lastpage:518; numberofpages:2; journal:JOURNAL OF CROHN'S AND COLITIS; http://hdl.handle.net/11573/1472126Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103473930

الإتاحة: https://doi.org/10.1093/ecco-jcc/jjaa164Test
http://hdl.handle.net/11573/1472126Test

المؤلفون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine

المصدر: Journal of Crohn's and colitis., Oxford : Oxford University Press, 2021, vol. 15, no. 3, p. 517-518. ; ISSN 1873-9946 ; eISSN 1876-4479

مصطلحات موضوعية: genetics and molecular epidemiology, paediatrics, VEO-IBD, monogenic disorders, TNGS

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:93985912/93985912.pdfTest; https://repository.vu.lt/VU:ELABAPDB93985912&prefLang=en_USTest

الإتاحة: https://doi.org/10.1093/ecco-jcc/jjaa164Test
https://repository.vu.lt/VU:ELABAPDB93985912&prefLang=en_USTest

المؤلفون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M., Cerf-Bensussan, Nadine

المساهمون: Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egrita, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Jano, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Ander, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidota, Willot, Stéphanie, Ruemmele, Frank M., Cerf-Bensussan, Nadine

مصطلحات موضوعية: Genetics and molecular epidemiology, monogenic disorders, paediatrics, TNGS, VEO-IBD, Gastroenterology

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29788237; info:eu-repo/semantics/altIdentifier/wos/WOS:000443561000013; volume:12; issue:9; firstpage:1104; lastpage:1112; numberofpages:9; journal:JOURNAL OF CROHN'S AND COLITIS; http://hdl.handle.net/11570/3134610Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055751894; https://academic.oup.com/ecco-jcc/article/12/9/1104/4999332Test

الإتاحة: https://doi.org/10.1093/ecco-jcc/jjy068Test
http://hdl.handle.net/11570/3134610Test
https://academic.oup.com/ecco-jcc/article/12/9/1104/4999332Test

المؤلفون: Bourrier, Anne, Breuer, Christian, Breton, Anne, Charbit-Henrion, Fabienne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stephanie, Cremilleux, Clara, Dabadie, Alain, EĞRİTAŞ GÜRKAN, ÖDÜL, Dumant-Forest, Clementine, Fabre, Alexandre, Fischer, Aude, German Diaz, Marta, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M., Melek, Jan, Manuel Navas-Lopez, Victor, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Benedicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stephanie, Ruemmele, Frank M., Cerf-Bensussan, Nadine, Alibeu, Olivier, Rieux-Laucat, Frederic, Levy, Eva, Stolzenberg, Marie-Claude, Fourrage, Cecile, Bruneau, Julie, Rakotobe, Sabine, Begue, Bernadette, Nowak, Jan, Duclaux-Loras, Remi, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Hanein, Sylvain, Aloi, Marina, Dias, Jorge Amil, Parlato, Marianna, Ben Hariz, Mongi

العلاقة: 0310a6b4-0b1d-435e-bdd4-a36346391218; https://avesis.gazi.edu.tr/publication/details/0310a6b4-0b1d-435e-bdd4-a36346391218/oaiTest

الإتاحة: https://doi.org/10.1093/ecco-jcc/jjy068Test
https://avesis.gazi.edu.tr/publication/details/0310a6b4-0b1d-435e-bdd4-a36346391218/oaiTest

المؤلفون: Mazuet, Christelle, Yoon, Eun-Jeong, Boyer, Sophie, Pignier, Stéphanie, Blanc, Thierry, Doehring, Isabelle, Meziane-Cherif, Djalal, Dumant-Forest, Clémentine, Sautereau, Jean, Legeay, Christine, Bouvet, Philippe, Bouchier, Christiane, Quijano-Roy, Suzana, Pestel-Caron, Martine, Courvalin, Patrice, Popoff, Michel R

المساهمون: Bactéries anaérobies et Toxines, Institut Pasteur Paris (IP), Agents antibactériens, Groupe de Recherche sur les Antimicrobiens et les Micro-Organismes (GRAM 1.0), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie médicale et médecine de l'adolescent Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Pédiatrie Néonatale et Réanimation – Neuropédiatrie CHU Rouen, Hôpital Charles Nicolle Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Hôpital Raymond Poincaré AP-HP, Génomique (Plate-Forme) - Genomics Platform, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Filière Neuromusculaire (FILNEMUS), Sequencing was performed at the Genomics Platform, member of “France Génomique” consortium (ANR10-INBS-09-08). This work was supported by Institut Pasteur, Institut national de Veille Sanitaire, and by an unrestricted grant from Reckitt Benckiser., ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 1198-743X.

مصطلحات موضوعية: infant botulism, botulism, Clostridium botulinum, antibiotic-resistance, penicillin, metronidazole, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27108966; pasteur-01325747; https://pasteur.hal.science/pasteur-01325747Test; https://pasteur.hal.science/pasteur-01325747/documentTest; https://pasteur.hal.science/pasteur-01325747/file/1-s2%200-S1198743X16300684-main.pdfTest; PUBMED: 27108966

الإتاحة: https://doi.org/10.1016/j.cmi.2016.04.011Test
https://pasteur.hal.science/pasteur-01325747Test
https://pasteur.hal.science/pasteur-01325747/documentTest
https://pasteur.hal.science/pasteur-01325747/file/1-s2%200-S1198743X16300684-main.pdfTest

المؤلفون: Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak

المصدر: European Journal of Human Genetics ; volume 24, issue 12, page 1746-1751 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2016.84Test
http://www.nature.com/articles/ejhg201684.pdfTest
http://www.nature.com/articles/ejhg201684Test

المؤلفون: Feugray, Guillaume, Guillerme, Jennifer, Fraissinet, François, Brunel, Valéry, Chagraoui, Abdeslam, Dumant-Forest, Clémentine, Lahary, Agnès

المساهمون: Epidémiosurveillance de protozooses à transmission alimentaire et vectorielle (ESCAPE), Université de Reims Champagne-Ardenne (URCA)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)

المصدر: ISSN: 0003-3898 ; Annales de Biologie Clinique ; https://normandie-univ.hal.science/hal-03751958Test ; Annales de Biologie Clinique, 2020, 78 (4), pp.425-432. ⟨10.1684/abc.2020.1574⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03751958; https://normandie-univ.hal.science/hal-03751958Test

الإتاحة: https://doi.org/10.1684/abc.2020.1574Test
https://normandie-univ.hal.science/hal-03751958Test

المؤلفون: Lecoquierre, François, Bonnevalle, Antoine, Chadie, Alexandra, Gayet, Claire, Dumant‐Forest, Clémentine, Renaux‐Petel, Mariette, Leca, Jean‐Baptiste, Hazelzet, Tristan, Brasseur‐Daudruy, Marie, Louillet, Ferielle, Muraine, Marc, Coutant, Sophie, Quenez, Olivier, Boland, Anne, Deleuze, Jean‐François, Frebourg, Thierry, Goldenberg, Alice, Saugier‐Veber, Pascale, Guerrot, Anne‐Marie, Nicolas, Gaël

المصدر: American Journal of Medical Genetics Part A ; volume 179, issue 11, page 2257-2262 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.61317Test

المؤلفون: Feugray, Guillaume, Guillerme, Jennifer, Fraissinet, François, Brunel, Valery, Chagraoui, Abdeslam, Dumant-Forest, Clémentine, Lahary, Agnès

المصدر: Annales de Biologie Clinique | 10 | 4 | 2023-09-26 | p. 425-432 | 0003-3898

مصطلحات موضوعية: maladie de Wilson, cuivre, céruléoplasmine, anémie hémolytique aiguë, hypophosphatasémie, Wilson disease, copper, ceruleoplasmin, acute haemolytic anemia, hypophosphatemia

العلاقة: https://www.cairn.info/article.php?ID_ARTICLE=ABC_784_0425Test

الإتاحة: https://www.cairn.info/article.php?ID_ARTICLE=ABC_784_0425Test

المؤلفون: Feugray, Guillaume, Guillerme, Jennifer, Fraissinet, François, Brunel, Valéry, Chagraoui, Abdeslam, Dumant-Forest, Clémentine, Lahary, Agnès

المصدر: Annales de Biologie Clinique; jui/aou2020, Vol. 78 Issue 4, p425-432, 8p