Bilaketaren emaitzak - Erika Della Mina

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  1. 1
    XX males SRY negative: a confirmed cause of infertility

    XX males SRY negative: a confirmed cause of infertility nork Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Maria Grazia Patricelli, Erika Della Mina, Antonella Forlino, Orsetta Zuffardi

    Argitaratua 2011
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  2. 2
    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform nork Erika Della Mina, Roberto Ciccone, Francesca Brustia, Baran Bayindir, Ivan Limongelli, Annalisa Vetro, Maria Iascone, Laura Pezzoli, Riccardo Bellazzi, Gianfranco Perotti, Valentina De Giorgis, Simona Lunghi, Giangennaro Coppola, Simona Orcesi, Pietro Merli, Salvatore Savasta, Pierangelo Veggiotti, Orsetta Zuffardi

    Argitaratua 2014
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  3. 3
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment nork Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Argitaratua 2010
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  4. 4
    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

    Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts nork Erika Della Mina, A. Borghesi, Hao Zhou, Salim Bougarn, Sabri Boughorbel, Laura Israël, Ilaria Meloni, Maya Chrabieh, Yun Ling, Yuval Itan, Alessandra Renieri, Iolanda Mazzucchelli, Sabrina Basso, Piero Pavone, Raffaele Falsaperla, Roberto Ciccone, Rosa Maria Cerbo, Mauro Stronati, Capucine Pïcard, Orsetta Zuffardi, Laurent Abel, Damien Chaussabel, Nico Marr, Xiaoxia Li, Jean‐Laurent Casanova, Anne Puel

    Argitaratua 2017
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  5. 5
    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A nork Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraïtag, Gillian Rice, Ashish Dhir, Marie‐Louise Frémond, Mathieu P. Rodero, Luís Seabra, Edwin Carter, Christine Bodemer, Daniela Buhaş, Bert Callewaert, Pascale de Lonlay, Lien De Somer, David A. Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A. Kurian, Hugh J. McMillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    Argitaratua 2021
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  6. 6
    Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

    Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity nork Laura Israël, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang, Vincent Pedergnana, Maya Chrabieh, Nicole Lemmens, Vanessa Sancho‐Shimizu, Marc Descatoire, Théo Lasseau, Elisabeth Israelsson, Lazaro Lorenzo, Yun Ling, Aziz Belkadi, Andrew E. Moran, Leonard E. Weisman, François Vandenesch, Frédéric Batteux, Sandra Weller, Michael Levin, Jethro Herberg, Avinash Abhyankar, Carolina Prando, Yuval Itan, Willem J. B. van Wamel, Capucine Pïcard, Laurent Abel, Damien Chaussabel, Xiaoxia Li, Bruce Beutler, Peter D. Arkwright, Jean‐Laurent Casanova, Anne Puel

    Argitaratua 2017
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  7. 7
    IRF4 haploinsufficiency in a family with Whipple’s disease

    IRF4 haploinsufficiency in a family with Whipple’s disease nork Antoine Guérin, Gaspard Kerner, Nico Marr, Janet Markle, Florence Fenollar, Natalie Sui Miu Wong, Sabri Boughorbel, Danielle T. Avery, S. Cindy, Salim Bougarn, Matthieu Bouaziz, Vivien Béziat, Erika Della Mina, Carmen Oleaga‐Quintas, Tomi Lazarov, Lisa Worley, Tina Nguyen, Étienne Patin, Caroline Deswarte, Rubén Martínez‐Barricarte, Soraya Boucherit, X Ayral, Sophie Edouard, Stéphanie Boisson‐Dupuis, Vimel Rattina, Benedetta Bigio, Guillaume Vogt, Frédéric Geissmann, Lluís Quintana‐Murci, Damien Chaussabel, Stuart G. Tangye, Didier Raoult, Laurent Abel, Jacinta Bustamante, Jean‐Laurent Casanova

    Argitaratua 2018
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  8. 8
    Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

    Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency nork Romain Lévy, Satoshi Okada, Vivien Béziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Mélanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Türkan Patıroğlu, Ekrem Ünal, M. Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matías Oleastro, Aydan İkincioğulları, Figen Doğu, Takaki Asano, Osamu Ohara, Yun Ling, Erika Della Mina, Didier Brönnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stéphanie Boisson‐Dupuis, Natalia Tahuil, Caner Aytekin, Aïcha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yıldız Çamcıoğlu, Fatih Çelmeli, Christoph Klein, Suzan A. AlKhater, Jean‐Laurent Casanova, Anne Puel

    Argitaratua 2016
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  9. 9
    Type I interferon-mediated autoinflammation due to DNase II deficiency

    Type I interferon-mediated autoinflammation due to DNase II deficiency nork Mathieu P. Rodero, Alessandra Tesser, Eva Bartok, Gillian Rice, Erika Della Mina, Marine Depp, Benoît Beitz, Vincent Bondet, Nicolas Cagnard, Darragh Duffy, Michaël Dussiot, Marie‐Louise Frémond, Marco Gattorno, Flavia Guillem, Naoki Kitabayashi, Fabrice Porcheray, Frédéric Rieux‐Laucat, Luís Seabra, Carolina Uggenti, Stefano Volpi, Leo Zeef, Marie-Alexandra Alyanakian, Jacques Beltrand, Anna Monica Bianco, Nathalie Boddaert, Chantal Brouzes, Sophie Candon, Roberta Caorsi, Marina Charbit, Monique Fabrè, Flavio Faletra, M Girard, Annie Harroche, Evelyn Hartmann, Dominique Lasne, Annalisa Marcuzzi, Bénédicte Neven, Patrick Nitschké, Tiffany Pascreau, Serena Pastore, Capucine Pïcard, Paolo Picco, Elisa Piscianz, Michel Polak, Pierre Quartier, Marion Rabant, Gabriele Stocco, Andrea Taddio, Florence Uettwiller, Erica Valencic, Diego Vozzi, Gunther Hartmann, Winfried Barchet, Olivier Hermine, Brigitte Bader‐Meunier, Alberto Tommasini, Yanick J. Crow

    Argitaratua 2017
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  10. 10
    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing nork Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie‐Thérèse El‐Daher, Gillian Rice, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie‐Louise Frémond, Luís Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclós, Erika Della Mina, Alejandro Rubio-Roldán, José L. García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Boland, Robert Olaso, Jean‐François Deleuze, Julien Baruteau, Karine Brochard, Jonathan D. Buckley, Vanessa Cavallera, Cristina Cereda, Liesbeth M. H. De Waele, Angus Dobbie, Diane Doummar, Frances Elmslie, Margarete Koch‐Hogrebe, Ram Kumar, Kate Lamb, John H. Livingston, Anirban Majumdar, Charles Marques Lorenço, Simona Orcesi, Sylviane Peudenier, Kevin Rostásy, Caroline A. Salmon, Christiaan Scott, Davide Tonduti, Guy Touati, Marialuisa Valente, Hélio van der Linden, Hilde Van Esch, Marie Vermelle, Kate Webb, Andrew P. Jackson, Martin A.M. Reijns, Nick Gilbert, Yanick J. Crow

    Argitaratua 2020
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  11. 11
    FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

    FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice nork Mana Momenilandi, Romain Lévy, Steicy Sobrino, Jingwei Li, Chantal Lagresle‐Peyrou, Hossein Esmaeilzadeh, Antoine Fayand, Corentin Le Floc’h, Antoine Guérin, Erika Della Mina, Debra A. Shearer, Ottavia M. Delmonte, Ahmad Yatim, Kevin Mulder, Mathieu Mancini, Darawan Rinchai, Adeline Denis, Anna‐Lena Neehus, Karla K. Balogh, Sarah A. Brendle, Hassan Rokni‐Zadeh, Majid Changi‐Ashtiani, Yoann Seeleuthner, Caroline Deswarte, Boris Bessot, Cassandre Crémadès, Marie Materna, Axel Cederholm, Masato Ogishi, Quentin Philippot, Omer Beganovic, Mania Ackermann, Margareta Wuyts, Taushif Khan, S. Fouéré, F. Herms, J. Chanal, Boaz Palterer, Julie Bruneau, Thierry Jo Molina, Stéphanie Leclerc‐Mercier, Jean‐Luc Prétet, Leila Youssefian, Hassan Vahidnezhad, Nima Parvaneh, Kristl G. Claeys, Rik Schrijvers, Marine Luka, Philippe Pérot, Jacques Fourgeaud, Céline Nourrisson, Philippe Poirier, Emmanuelle Jouanguy, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Luigi D. Notarangelo, Neil D. Christensen, Nils Landegren, Laurent Abel, Nico Marr, Emmanuelle Six, David Langlais, Tim Waterboer, Florent Ginhoux, S. Cindy, Stuart G. Tangye, Isabelle Meyts, Nico Lachmann, Jiafen Hu, Mohammad Shahrooei, Xavier Bossuyt, Jean‐Laurent Casanova, Vivien Béziat

    Argitaratua 2024
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