खोज परिणाम - Alina Kurolap

  • प्रदर्शित 1 - 9 परिणाम 9
परिणाम को परिष्कृत करें
  1. 1
    Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

    Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies द्वारा Yuval Yaron, Vered Ofen Glassner, Adi Mory, Noa Zunz Henig, Alina Kurolap, Anat Bar Shira, D. Brabbing Goldstein, Daphna Marom, Liat Ben‐Sira, Hagit Baris Feldman, G. Malinger, Karina Krajden Haratz, Adi Reches

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

    Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy द्वारा Alina Kurolap, Orly Eshach‐Adiv, Tova Hershkovitz, Tamar Paperna, Adi Mory, Danit Oz-Levi, Yaniv Zohar, Hanna Mandel, Judith Chezar, David Azoulay, Sarit Peleg, Elizabeth Half, Vered Yahalom, Lilach Finkel, Omer Weissbrod, Dan Geiger, Adi Tabib, Ron Shaoul, Daniella Magen, Lilach Bonstein, Dror Mevorach, Hagit Baris

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Carta
    सूची में सहेजें
    में बचाया:
  3. 3
    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis द्वारा Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel F. Martinez, Tamar Paperna, Lior Cohen, Marie Falkenberg Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth T. DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth Roeder, Kimberly Nugent, Arie van Haeringen, Michael J. Gambello, Avni Santani, Līvija Medne, Bryan L. Krock, Cara Skraban, Elaine H. Zackai, Holly Dubbs, Thomas Smol, Jamal Ghoumid, Michael Parker, Michael Wright, Peter D. Turnpenny, Jill Clayton‐Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    National Rapid Genome Sequencing in Neonatal Intensive Care

    National Rapid Genome Sequencing in Neonatal Intensive Care द्वारा Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Julia Grinshpun Cohen, Yocheved Morhi, Tatiana Smolkin, Lior Cohen, Shmuel Zangen, Adel Shalata, Arieh Riskin, Amir Peleg, Karen Lavie‐Nevo, Dror Mandel, Elana Chervinsky, Clari Felszer Fisch, Vered Fleisher Sheffer, Tzipora C. Falik‐Zaccai, Jonathan Rips, Noa Ofek Shlomai, Smadar Eventov Friedman, Calanit Hershkovich Shporen, Sagie Josefsberg Ben-Yehoshua, Aryeh Simmonds, Racheli Goldfarb Yaacobi, Sofia Bauer‐Rusek, Hussam Omari, Karin Weiss, Ori Hochwald, Arie Koifman, Omer Globus, Nurit Assia Batzir, Naveh Yaron, Reeval Segel, Iris Morag, Orit Reish, Aviva Eliyahu, Leah Leibovitch, Marina Eskin Schwartz, Ramy Abramsky, Amit Hochberg, Anat Oron, Ehud Banne, Igor Portnov, Nadra Nasser Samra, Amihood Singer, Hagit Baris Feldman

    प्रकाशित 2024
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder द्वारा Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik‐Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González-Paramos, Katherine Gowan, Clair Habib, Rebecca Halligan, Limor Kalfon, Kaz M. Knight, Dirk J. Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J.M. Pruijn, Pedro Rebelo‐Guiomar, Ann Saada, Bruno Sáinz, Hayley Salvemini, Mirthe H. Schoots, Jan Smeitink, Maciej Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric P. Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel Ángel Fernández‐Moreno, Hagit Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L.K. Van Hove

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease द्वारा Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    प्रकाशित 2023
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths द्वारा Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Jérémy Manry, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina García-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles‐Édouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesús Troya, Sophie Trouillet‐Assant, Alexandre Bélot, Kahina Saker, Pierre Garçon, Jacques G. Rivière, Jean‐Christophe Lagier, Stéphanie Gentile, Lindsey B. Rosen, Elana Shaw, Tomohiro Morio, Junko Tanaka, David Dalmau, Pierre‐Louis Tharaux, D. Séné, Alain Stépanian, Bruno Mégarbane, Vasiliki Triantafyllia, Arnaud Fekkar, James R. Heath, José Luis Franco, Juan‐Manuel Anaya, Jordi Solé‐Violán, Luisa Imberti, Andrea Biondi, Paolo Bonfanti, Riccardo Castagnoli, Ottavia M. Delmonte, Yu Zhang, Andrew L. Snow, Steven M. Holland, Catherine M. Biggs, Marcela Moncada‐Vélez, Andrés A. Arias, Lazaro Lorenzo, Soraya Boucherit, Boubacar Coulibaly, Dany Anglicheau, Anna M. Planas, Filomeen Haerynck, Sotiriјa Duvlis, Robert L. Nussbaum, Tayfun Özçelık, Sevgi Keleş, Ahmed Aziz Bousfiha, Jalila El Bakkouri, Carolina Ramírez‐Santana, Stéphane Paul, Qiang Pan‐Hammarström, Lennart Hammarström, Annabelle Dupont, Alina Kurolap, Christine N. Metz, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Fabio Ciceri, Lucila Akune Barreiros, Elena Domínguez‐Garrido, Mateus Vidigal, Mayana Zatz, Diederik van de Beek, Sabina Sahanic, Ivan Tancevski, Yuriy Stepanovskyy, Oksana Boyarchuk, Yoko Nukui, Miyuki Tsumura, Loreto Vidaur, Stuart G. Tangye, Sonia Burrel, Darragh Duffy, Lluís Quintana‐Murci, Adam Klocperk

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

    The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies द्वारा Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina García-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles‐Édouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesús Troya, Sophie Trouillet‐Assant, Alexandre Bélot, Kahina Saker, Pierre Garçon, Jacques G. Rivière, Jean‐Christophe Lagier, Stéphanie Gentile, Lindsey B. Rosen, Elana Shaw, Tomohiro Morio, Junko Tanaka, David Dalmau, Pierre‐Louis Tharaux, D. Séné, Alain Stépanian, Bruno Mégarbane, Vasiliki Triantafyllia, Arnaud Fekkar, James R. Heath, José Luis Franco, Juan‐Manuel Anaya, Jordi Solé‐Violán, Luisa Imberti, Andrea Biondi, Paolo Bonfanti, Riccardo Castagnoli, Ottavia M. Delmonte, Yu Zhang, Andrew L. Snow, Steven M. Holland, Catherine M. Biggs, Marcela Moncada‐Vélez, Andrés A. Arias, Lazaro Lorenzo, Soraya Boucherit, Dany Anglicheau, Anna M. Planas, Filomeen Haerynck, Sotiriјa Duvlis, Robert L. Nussbaum, Tayfun Özçelık, Sevgi Keleş, Aziz Bousfiha, Jalila El Bakkouri, Carolina Ramírez‐Santana, Stéphane Paul, Qiang Pan‐Hammarström, Lennart Hammarström, Annabelle Dupont, Alina Kurolap, Christine N. Metz, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Fabio Ciceri, Lucila Akune Barreiros, Elena Domínguez‐Garrido, Mateus Vidigal, Mayana Zatz, Diederik van de Beek, Sabina Sahanic, Ivan Tancevski, Yuriy Stepanovskyy, Oksana Boyarchuk, Yoko Nukui, Miyuki Tsumura, Loreto Vidaur, Stuart G. Tangye, Sonia Burrel, Darragh Duffy, Lluı́s Quintana-Murci, Adam Klocperk, Nelli Y. Kann

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Pré-impressão
    सूची में सहेजें
    में बचाया:
  9. 9
    The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

    The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies द्वारा Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina García-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles‐Édouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesús Troya, Sophie Trouillet‐Assant, Alexandre Bélot, Kahina Saker, Pierre Garçon, Jacques G. Rivière, Jean‐Christophe Lagier, Stéphanie Gentile, Lindsey B. Rosen, Elana Shaw, Tomohiro Morio, Junko Tanaka, David Dalmau, Pierre‐Louis Tharaux, D. Séné, Alain Stépanian, Bruno Mégarbane, Vasiliki Triantafyllia, Arnaud Fekkar, James R. Heath, José Luis Franco, Juan‐Manuel Anaya, Jordi Solé‐Violán, Luisa Imberti, Andrea Biondi, Paolo Bonfanti, Riccardo Castagnoli, Ottavia M. Delmonte, Yu Zhang, Andrew L. Snow, Steven M. Holland, Catherine M. Biggs, Marcela Moncada‐Vélez, Andrés A. Arias, Lazaro Lorenzo, Soraya Boucherit, Dany Anglicheau, Anna M. Planas, Filomeen Haerynck, Sotiriјa Duvlis, Tayfun Özçelık, Sevgi Keleş, Ahmed Aziz Bousfiha, Jalila El Bakkouri, Carolina Ramírez‐Santana, Stéphane Paul, Qiang Pan‐Hammarström, Lennart Hammarström, Annabelle Dupont, Alina Kurolap, Christine N. Metz, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Fabio Ciceri, Lucila Akune Barreiros, Elena Domínguez‐Garrido, Mateus Vidigal, Mayana Zatz, Diederik van de Beek, Sabina Sahanic, Ivan Tancevski, Yuriy Stepanovskyy, Oksana Boyarchuk, Yoko Nukui, Miyuki Tsumura, Loreto Vidaur, Stuart G. Tangye, Sonia Burrel, Darragh Duffy, Lluı́s Quintana-Murci, Adam Klocperk, Nelli Y. Kann, Anna Shcherbina

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

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