Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Meyer, Firenze"'
Autor:
Gagliardi, Luigi, Rusconi, Franca, Bellù, Roberto, Zanini, Rinaldo, Mirri, Gianpaolo, Condò, Manuela, Turoli, Daniela, Vanzati, Mara, Mosca, Fabio, De Nisi, Giuseppe, Polacco, Paola, Villa, Elena, Barbarini, Mario, Fasolato, Valeria, Franco, Caterina, Contiero, Raffaella, Ellero, Serena, Cattarossi, Luigi, Abbiati, Laura, Borroni, Cesarina, Prandi, Giovanna, Fabris, Claudio, Vielmi, Francesca, Borgione, Silvia, Agosti, Massimo, Tandoi, Francesco, Guidali, Rosanna, De Curtis, Mario, Tozzi, Claudio, Lucchini, Renato, Battaglioli, Marina, Lista, Gian Luca, Introvini, Paola, Ferrari, Fabrizio, Gallo, Claudio, Bellante, Elvira, Bottura, Chiara, Zeringyte, Aurelija, Pasquali, Francesca, Boccacci, Simona, Latini, Giuseppe, Giannuzzi, Raffaella, Martinelli, Stefano, Brunelli, Alberto, Di Nunzio, Maria Lucia, Vendemmiati, Antonio, Carli, Giovanna, Bordigato, Michela Alfiero, Filippone, Marco, Meneghesso, Davide, Romeo, Nicola, Mammoliti, Palma, Mastretta, Emanuele, Barberis, Laura, Farina, Daniele, Gancia, Gianpaolo, Dalmazzo, Cristina, Napolitano, Marcello, Messina, Francesco, Villa Betania, Napoli, Magaldi, Rosario, Rinaldi, Matteo, Litta, Rosangela, Lago, Paola, Zanardo, Vincenzo, Chiandetti, Lino, Visentin, Stefano, Presta, Giuseppe, Cella, Davide, Poggiani, Carlo, Ferrari, Daniela, Parati, Sara, Lombardo, Francesco, Grigorio, Rosetta, Barera, Graziano, Bove, Maddalena, Poloniato, Antonella, Burgio, Giampiero, Sala, Elena, Barberi, Ignazio, Tiralongo, Venera, Arco, Alessandro, Mazzeo, Danila, Dani, Carlo, Pratesi, Simone, Mignatti, Valeria, Ancora, Gina, Faldella, Giacomo, Grandi, Sara, Locatelli, Chiara, Stronati, Mauro, Perotti, Gianfranco, Chirico, Gaetano, Migliori, Claudio, De Marini, Sergio, Forleo, Vincenzo, Paludetto, Roberto, Capasso, Letizia, Mansi, Giuseppina, Raimondi, Francesco, Bona, Gianni, Stucchi, Ilaria, Savastio, Silvia, Ferrero, Federica, Parola, Andrea, Padovani, Ezio Maria, Viviani, Elena, Pecoraro, Laura, Agostino, Rocco, Gizzi, Camilla, Massenzi, Luca, Messner, Hubert, Staffler, Alex, Salvia, Gennaro, Esposito, Luigi, Forziati, Vincenzo, Latorre, Giuseppe, Sandri, Fabrizio, Alati, Stefania, Demarca, Fabrizio, Lombardi, Oreste, Costabile, Carmine Deni, Scarpelli, Gianfranco, Cavalli, Claudio, Volante, Enrico, Moretti, Sabrina, Ganguzza, Olga, Spinella, Bartolomeo, Haass, Cristina, Scapillati, Eleonora, Consigli, Chiara, Gatta, Alberto, Quitadamo, Pasqua, Boldrini, Antonio, Vuerich, Marco, Sigali, Emilio, Fiorini, Patrizio, Petrucci, Letizia, Moroni, Marco, Meyer, Firenze, Bragetti, Patrizia, Casucci, Paola, Minelli, Liliana, Mezzetti, Daniele, Orfeo, Luigi, De Luca, Maria Gabriella, Laforgia, Nicola, Grassi, Alessandro, Dotta, Andrea, Savignoni, Ferdinando, Bagnoli, Franco, De Felice, Claudio, Badii, Silvia, Biasini, Augusto, Belluzzi, Antonio, Stella, Marcello, Romagnoli, Costantino, Zecca, Enrico, Barone, Giovanni, Colleselli, Paolo, Vecchiato, Luca, Nicolussi, Silvia, Giliberti, Paolo, Chello, Giovanni, Rojo, Silvana, De Vivo, Massimiliano, Giovanettoni, Chiara, Colnaghi, Clelia A., Manfredini, Valeria, Verucci, Elena, Placidi, Giulia, Belloni, Cesare, Carrera, Giuseppe, Zambetti, Chiara, Biban, Paolo, Serra, Alessandra, Sacco, Francesco, Vetrano, Gennaro, Furcolo, Giuseppe, Pasquariello, Brigida, Falco, Luigi, Ausanio, Gaetano, Bernardo, Italo, Capasso, Antonella, Marchesano, Giuseppe, Nosari, Norberto, Sarnelli, Paola, Ciraci, Giovanni, Merazzi, Daniele, Gazzolo, Diego, Temperini, Francesca, Sabatini, Miriam, Colivicchi, Micaela, Del Vecchio, Antonio, Tarantino, Marzia, Gargano, Giancarlo, Pedori, Simona, Bellettato, Massimo, Pesavento, Roberta, Cesaro, Alessandra, Scollo, Massimo, Mondello, Isabella, Pugliese, Aniello, Iervolino, Claudio, Corsello, Giovanni, Giuffré, Mario, Betta, Pasqua, Romeo, Mario Giuseppe, Saporito, Alessandro, Leone, Maria Grazia, Rodonò, Alessandro, Franceschi, Alessia, Risso, Francesco M., Carpentieri, Mauro, Vecchiano, Teresa, Cigliano, Maria Pia, Paolillo, Piermichele, Picone, Simonetta, Marra, Antonio, Rossetti, Gessica, Testa, Tiziana, Del Cuore, Fernando, Crescenzi, Francesco, Poloni, Gianna, Russo, Maria Chiara, Nigro, Francesco, Tina, Gabriella Lucia, Brindisino, Patrizia, Gurrado, Raffaele, Felice, Maurizio, Formica, Isabella
OBJECTIVES: We compared the relative effect of hypertensive disorders of pregnancy and chorioamnionitis on adverse neonatal outcomes in very preterm neonates, and studied whether gestational age (GA) modulates these effects. METHODS: A cohort of neon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3ec422e0145e98f0a41c3e93016c00
http://hdl.handle.net/10807/64610
http://hdl.handle.net/10807/64610
Autor:
Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K. Chung, Can Ficicioglu, François Feillet, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Jacek Majewski, Amelia Morrone, David S. Rosenblatt, Jean-Louis Guéant
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩
Background epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6386fb5b3d9ff891e941b0744d967396
https://hal.univ-lorraine.fr/hal-03664165/document
https://hal.univ-lorraine.fr/hal-03664165/document
Surveillance of leishmaniasis cases from 15 European centres, 2014 to 2019: a retrospective analysis
Autor:
Van der Auwera, Gert, Davidsson, Leigh, Buffet, Pierre, Ruf, Marie-Thérèse, Gramiccia, Marina, Varani, Stefania, Chicharro, Carmen, Bart, Aldert, Harms, Gundel, Chiodini, Peter L, Brekke, Hanne, Robert-Gangneux, Florence, Cortes, Sofia, Verweij, Jaco J, Scarabello, Alessandra, Karlsson Söbirk, Sara, Guéry, Romain, van Henten, Saskia, Di Muccio, Trentina, Carra, Elena, van Thiel, Pieter, Vandeputte, Martin, Gaspari, Valeria, Blum, Johannes, LeishMan Surveillance network
Publikováno v:
Euro surveillance, 27(4). Centre Europeen pour la Surveillance Epidemiologique du SIDA
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European, 2022, 27 (4), ⟨10.2807/1560-7917.ES.2022.27.4.2002028⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European, 2022, 27 (4), ⟨10.2807/1560-7917.ES.2022.27.4.2002028⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)
Background Surveillance of human leishmaniasis in Europe is mostly limited to country-specific information from autochthonous infections in the southern part. As at the end of 2021, no integrated analysis has been performed for cases seen across cent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a7df04b198e54666ab8a735242f861
http://hdl.handle.net/11585/853653
http://hdl.handle.net/11585/853653
Autor:
A. Perciaccante, Lorenzo Masieri, Otto Appenzeller, V. Asensi, Donatella Lippi, Philippe Charlier, Raffaella Bianucci
Publikováno v:
Journal of Maternal-Fetal & Neonatal Medicine
Journal of Maternal-Fetal & Neonatal Medicine, 2021, 34 (23), pp.3994-3996. ⟨10.1080/14767058.2019.1698542⟩
Journal of Maternal-Fetal & Neonatal Medicine, 2021, 34 (23), pp.3994-3996. ⟨10.1080/14767058.2019.1698542⟩
Dear Editor,Recognized for centuries, cryptorchidism or undescended testis, is the most common problem in pediatric urology and it is estimated to affect 1–4% of full term and up to 30% of preterm ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27c7166ebd6cdc925cc707d2527973de
https://hal.science/hal-03936088
https://hal.science/hal-03936088
Autor:
Lea, Lenglart, Naim, Ouldali, Kate, Honeyford, Zsolt, Bognar, Silvia, Bressan, Danilo, Buonsenso, Liviana, Da Dalt, Tisham, De, Ruth, Farrugia, Ian K, Maconochie, Henriette A, Moll, Rianne, Oostenbrink, Niccolo, Parri, Damian, Roland, Katy, Rose, Esra, Akyüz Özkan, François, Angoulvant, Camille, Aupiais, Clarissa, Barber, Michael, Barrett, Romain, Basmaci, Susana, Castanhinha, Antonio, Chiaretti, Sheena, Durnin, Patrick, Fitzpatrick, Laszlo, Fodor, Borja, Gomez, Susanne, Greber-Platzer, Romain, Guedj, Florian, Hey, Lina, Jankauskaite, Daniela, Kohlfuerst, Ines, Mascarenhas, Anna Maria, Musolino, Zanda, Pučuka, Sofia, Reis, Alexis, Rybak, Petra, Salamon, Matthias, Schaffert, Keren, Shahar-Nissan, Maria Chiara, Supino, Ozlem, Teksam, Caner, Turan, Roberto, Velasco, Ruud G, Nijman, Luigi, Titomanlio, Vanda, Anacleto, Orkun, Aydin, Elena, Bellelli, Ron, Berant, Thibault, De Groc, Sara, Geitoeira, Florian, Hoffmann, Franziska, Leeb, Fiona, Leonard, Mark, Lyttle, Lia, Mano, Vytenis, Masillonis, Rosa, Morello, Francisa, Saraiva, Gabor, Simon, Ines Silva, Costa, Joao Sous, Marques, Jonas, Thüminger, Corinne, Vasilico, Anna Chiara, Vittucci, Christoph, Zurl
Publikováno v:
European Respiratory Journal, 61(2):2201172. European Respiratory Society
European Respiratory Journal
European Respiratory Journal, 2022, pp.2201172. ⟨10.1183/13993003.01172-2022⟩
European Respiratory Journal
European Respiratory Journal, 2022, pp.2201172. ⟨10.1183/13993003.01172-2022⟩
BackgroundBronchiolitis is a major source of morbimortality among young children worldwide. Non-pharmaceutical interventions (NPIs) implemented to reduce the spread of severe acute respiratory syndrome coronavirus 2 may have had an important impact o
Autor:
Sophia Tsabouri, Ozge Soyer, Antonino Romano, Marina Atanaskovic-Markovic, Pascal Demoly, Natalia Blanca-López, Jean-Christoph Roger J-P Caubet, George Du Toit, Eva Rebelo Gomes, Francesca Mori, Semanur Kuyucu
Publikováno v:
Pediatric Allergy and Immunology
Pediatric Allergy and Immunology, Wiley, 2021, 32 (3), pp.425-436. ⟨10.1111/pai.13409⟩
Pediatric Allergy and Immunology, Wiley, 2021, 32 (3), pp.425-436. ⟨10.1111/pai.13409⟩
International audience; Background: Antiepileptic drugs (AEDs) are widely used for the treatment of epilepsy, but they can be associated with the development of mainly delayed/non-immediate hypersensitivity reactions (HRs). Although these reactions a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e4c632010f6932b9045fc1a4f011f2
https://hal.umontpellier.fr/hal-03229724
https://hal.umontpellier.fr/hal-03229724
Autor:
Alice Hadchouel, Odile Boespflug-Tanguy, Eric Jeziorski, Thomas Blauwblomme, Buthaina Al Adba, Alice Lepelley, Isabelle Desguerre, Gillian I. Rice, Edwin Carter, Véronique Hentgen, Christine Bodemer, Lorenzo Lodi, Sandrine Passemard, Yanick J. Crow, Marie Hully, Fanny Mochel, Camille Ducrocq, Magalie Barth, Jay Shetty, Brigitte Bader-Meunier, Isabelle Melki, Florence Renaldo, Vincent Bondet, Miguel Hie, Marie Pouletty, Russell C. Dale, Romain Lévy, Pierre Ellul, Simona Orcesi, Bénédicte Neven, Cécile Dumaine, Luis Seabra, Darragh Duffy, Fabienne Dulieu, Marie-Louise Frémond, Stéphane Blanche, Rainer Seidl, Maria José Martin-Niclos, Pierre Quartier
Publikováno v:
Journal of Clinical Immunology
Journal of Clinical Immunology, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩
Journal of Clinical Immunology, Springer Verlag, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩
Lodi, L, Melki, I, Bondet, V, Seabra, L, Rice, G I, Carter, E, Lepelley, A, Martin-Niclós, M J, Al Adba, B, Bader-Meunier, B, Barth, M, Blauwblomme, T, Bodemer, C, Boespflug-Tanguy, O, Dale, R C, Desguerre, I, Ducrocq, C, Dulieu, F, Dumaine, C, Ellul, P, Hadchouel, A, Hentgen, V, Hié, M, Hully, M, Jeziorski, E, Lévy, R, Mochel, F, Orcesi, S, Passemard, S, Pouletty, M, Quartier, P, Renaldo, F, Seidl, R, Shetty, J, Neven, B, Blanche, S, Duffy, D, Crow, Y J & Frémond, M-L 2021, ' Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies ', Journal of clinical immunology, vol. 41, no. 3, pp. 603-609 . https://doi.org/10.1007/s10875-020-00952-x
Lodi, L, Melki, I, Bondet, V, Seabra, L, Rice, G I, Carter, E, Lepelley, A, Martin-Niclos, M J, Al Adba, B, Bader-Meunier, B, Barth, M, Blauwblomme, T, Bodemer, C, Boespflug-tanguy, O, Dale, R C, Desguerre, I, Ducrocq, C, Dulieu, F, Dumaine, C, Ellul, P, Hadchouel, A, Hentgen, V, Hié, M, Hully, M, Jeziorski, E, Lévy, R, Mochel, F, Orcesi, S, Passemard, S, Pouletty, M, Quartier, P, Renaldo, F, Seidl, R, Shetty, J, Neven, B, Blanche, S, Duffy, D, Crow, Y J & Frémond, M-L 2021, ' Differential expression of interferon alpha protein provides clues to tissue specificity across type I interferonopathies ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-020-00952-x
Journal of Clinical Immunology, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩
Journal of Clinical Immunology, Springer Verlag, 2021, 41 (3), pp.603-609. ⟨10.1007/s10875-020-00952-x⟩
Lodi, L, Melki, I, Bondet, V, Seabra, L, Rice, G I, Carter, E, Lepelley, A, Martin-Niclós, M J, Al Adba, B, Bader-Meunier, B, Barth, M, Blauwblomme, T, Bodemer, C, Boespflug-Tanguy, O, Dale, R C, Desguerre, I, Ducrocq, C, Dulieu, F, Dumaine, C, Ellul, P, Hadchouel, A, Hentgen, V, Hié, M, Hully, M, Jeziorski, E, Lévy, R, Mochel, F, Orcesi, S, Passemard, S, Pouletty, M, Quartier, P, Renaldo, F, Seidl, R, Shetty, J, Neven, B, Blanche, S, Duffy, D, Crow, Y J & Frémond, M-L 2021, ' Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies ', Journal of clinical immunology, vol. 41, no. 3, pp. 603-609 . https://doi.org/10.1007/s10875-020-00952-x
Lodi, L, Melki, I, Bondet, V, Seabra, L, Rice, G I, Carter, E, Lepelley, A, Martin-Niclos, M J, Al Adba, B, Bader-Meunier, B, Barth, M, Blauwblomme, T, Bodemer, C, Boespflug-tanguy, O, Dale, R C, Desguerre, I, Ducrocq, C, Dulieu, F, Dumaine, C, Ellul, P, Hadchouel, A, Hentgen, V, Hié, M, Hully, M, Jeziorski, E, Lévy, R, Mochel, F, Orcesi, S, Passemard, S, Pouletty, M, Quartier, P, Renaldo, F, Seidl, R, Shetty, J, Neven, B, Blanche, S, Duffy, D, Crow, Y J & Frémond, M-L 2021, ' Differential expression of interferon alpha protein provides clues to tissue specificity across type I interferonopathies ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-020-00952-x
International audience; Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the basis of which remains unclear. We co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14739d424dc89b8b397326fdee8ff2a6
https://hal-pasteur.archives-ouvertes.fr/pasteur-03236262
https://hal-pasteur.archives-ouvertes.fr/pasteur-03236262
Autor:
Franková, Věra, Driscoll, Riona O., Jansen, Marleen E., Loeber, J. Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D., Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H., Zeyda, Maximilian, Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.67-78. ⟨10.1038/s41431-020-00716-6⟩
European Journal of Human Genetics, 29(1), 67-78. Nature Publishing Group
Eur J Hum Genet
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ' Regulatory landscape of providing information on newborn screening to parents across Europe ', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78 . https://doi.org/10.1038/s41431-020-00716-6
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.67-78. ⟨10.1038/s41431-020-00716-6⟩
European Journal of Human Genetics, 29(1), 67-78. Nature Publishing Group
Eur J Hum Genet
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, ' Regulatory landscape of providing information on newborn screening to parents across Europe ', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78 . https://doi.org/10.1038/s41431-020-00716-6
Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f843368f9a6852b0b411d4955f565d13
https://www.hal.inserm.fr/inserm-03274425
https://www.hal.inserm.fr/inserm-03274425
Autor:
Donadieu, Jean, Larabi, Islam Amine, Tardieu, Mathilde, Visser, Johannes, Hutter, Caroline, Sieni, Elena, Kabbara, Nabil, Barkaoui, Mohamed, Milne, Paul, Haroche, Julien, Taly, Valérie, Collinson, Matthew, Alvarez, Jean-Claude, J.F., Emile, Heritier, Sébastien
Publikováno v:
34th Annual Meeting of the Histiocyte Society
34th Annual Meeting of the Histiocyte Society, Jan 2019, Libon, Portugal. pp.e27548, ⟨10.1002/pbc.27548⟩
34th Annual Meeting of the Histiocyte Society, Jan 2019, Libon, Portugal. pp.e27548, ⟨10.1002/pbc.27548⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bd12ddccb331869c2ec31143d1b40417
https://www.hal.inserm.fr/inserm-02413178
https://www.hal.inserm.fr/inserm-02413178
Autor:
Bertrand Isidor, Christine Francannet, D. Li, Samuel W. Baker, Gaëlle Vieville, Martine Doco-Fenzy, David Geneviève, I. Giurgea, Anna Gréen, Emily Fassi, Caroline Nava, Roseline Caumes, C. Fournier, Alexandra Afenjar, Françoise Devillard, Yuri A. Zarate, Damien Sanlaville, Michael Field, Elisabetta Lapi, Sandra Whalen, Emma Bedoukian, Alice Goldenberg, S. Steinwall Larsen, Jamal Ghoumid, Marjolaine Willems, M. Wenzel, Isabelle Marey, Sylvie Picker-Minh, Thomas Smol, Anne-Marie Guerrot, Dominique Bonneau, Gaetan Lesca, Delphine Héron, Elizabeth J. Bhoj, Véronique Satre, Sylvie Manouvrier-Hanu, Christine Coubes, Alain Verloes, Margarita Stefanova, Gaël Nicolas, Amélie Piton, Odile Boute-Benejean, Laurence Faivre, Caroline Thuillier, Bénédicte Gérard, Nicolas Chatron, Florence Petit, Beth Keena, Elise Boudry-Labis, C. Colson, Sonia Bouquillon, Avni Santani, Boris Keren, Lisa Ewans, Tony Roscioli, N. Le Meur, Paul Kuentz, Bryan L. Krock, Catherine Roche-Lestienne, Anne Dieux-Coeslier, Alban Ziegler, Pascale Saugier-Veber, Cyril Mignot, Vera M. Kalscheuer, Addie I. Nesbitt, Charles Coutton
Publikováno v:
neurogenetics
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
neurogenetics, Springer Verlag, 2018, 〈https://link.springer.com/article/10.1007%2Fs10048-018-0541-0〉. 〈10.1007/s10048-018-0541-0〉
Neurogenetics
Neurogenetics, 2018, 19, pp.93-103
IF 3.269; International audience; Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26742ebefa31c9d6ec26971054a8e524
https://hal.science/hal-02393664
https://hal.science/hal-02393664