Zobrazeno 1 - 10
of 198
pro vyhledávání: '"Paul, Szabolcs"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100875- (2024)
Externí odkaz:
https://doaj.org/article/dd5c6ffd103d4a67a15bd4ef3f3cf744
Autor:
Maria Escolar, Mark Vander Lugt, Michele Poe, Melissa Greco, Keith Werling, Erandi De Silva, Juan Ruiz, Paul Szabolcs
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100024- (2023)
Externí odkaz:
https://doaj.org/article/19e7ec13bad04bccbd28a29f5dec9855
Autor:
Caridad Martinez, Brent Logan, Xuerong Liu, Christopher C. Dvorak, Lisa Madden, Lyndsay Molinari, Morton J. Cowan, Sung-Yun Pai, Elie Haddad, Jennifer Puck, Donald B. Kohn, Linda M. Griffith, Michael Pulsipher, Jennifer W. Leiding, Luigi D. Notarangelo, Troy Torgerson, Rebecca A. Marsh, Geoff D.E. Cuvelier, Susan Prockop, Rebecca H. Buckley, Caroline Y. Kuo, Alison Yip, Michael S. Hershfield, Roberta E Parrott, Christen L. Ebens, Theodore B. Moore, Richard J. O’Reilly, Malika Kapadia, Neena Kapoor, Lisa Forbes Satter, Lauri M. Burroughs, Aleksandra Petrovic, Monica S. Thakar, Deepak Chellapandian, Jennifer R. Heimall, David C. Shyr, Jeffrey J Bednarski, Ahmad Rayes, Shanmuganathan Chandrakasan, Troy C. Quigg, Blachy J Davila, Kenneth DeSantes, Hesham Eissa, Frederick Goldman, Jacob Rozmus, Ami J Shah, Mark Vander Lugt, Michael D. Keller, Kathleen E. Sullivan, Soma Jyonouchi, Christine Seroogy, Helene Decaluwe, Pierre Teira, Alan P. Knutsen, Morris Kletzel, Victor Aquino, Jeffrey H Davis, Paul Szabolcs
Publikováno v:
Transplantation and Cellular Therapy. 29:S91-S93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0824a310f115e5aa7f4a806f6f069dfa
https://doi.org/10.1016/s2666-6367(23)00185-9
https://doi.org/10.1016/s2666-6367(23)00185-9
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Autor:
Paul Szabolcs, Roei D. Mazor, Dima Yackoubov, Stuart Levy, Patrick Stiff, Andrew Rezvani, Rabi Hanna, John Wagner, Amy Keating, Caroline A. Lindemans, Nicole Karras, Joseph McGuirk, Nelson Hamerschlak, Ivan López-Torija, Guillermo Sanz, David Valcarcel, Mitchell E. Horwitz
Publikováno v:
Transplantation and Cellular Therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2ad650ff436b9e9f00bba244c616161
https://doi.org/10.1016/j.jtct.2023.04.018
https://doi.org/10.1016/j.jtct.2023.04.018
Autor:
Jessie L Barnum, Kathryn Torok, Franziska Rosser, Nicole Hogue, Shawna Mcintyre, Haley Havrilla, Vickie Vandergrift, Kirsten Rose-Felker, Vibha Sood, Adam Olson, Paul Szabolcs
Publikováno v:
Blood. 140:7707-7709
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b59a1b6184740a81a3d67ecf1020ca2
https://doi.org/10.1182/blood-2022-167533
https://doi.org/10.1182/blood-2022-167533
Autor:
Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O’Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D.E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lisa M. Madden, Holly K. Miller, Lolie Yu, Larisa Broglie, Alfred Gillio, Ami J. Shah, Alan P. Knutsen, Jeffrey P. Andolina, Avni Y. Joshi, Paul Szabolcs, Malika Kapadia, Caridad A. Martinez, Roberta E. Parrot, Kathleen E. Sullivan, Susan E. Prockop, Roshini S. Abraham, Monica S. Thakar, Jennifer W. Leiding, Donald B. Kohn, Michael A. Pulsipher, Linda M. Griffith, Luigi D. Notarangelo, Jennifer M. Puck
Publikováno v:
The Journal of allergy and clinical immunology.
Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562a8d4ce90337b5017d4b01cd104b9c
https://pubmed.ncbi.nlm.nih.gov/36456360
https://pubmed.ncbi.nlm.nih.gov/36456360
Publikováno v:
Blood
Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in galactocerebrosidase. The only effective treatment is hematopoietic stem cell transplantation (HSCT). Approximately 85% of Krabbe disease cases are the infantile subtypes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffd99cb13e775831c6002285368fe01
https://doi.org/10.1182/blood.2020005477
https://doi.org/10.1182/blood.2020005477
Autor:
Paul Szabolcs, Evelyn Garchar, Xiaohua Chen, Anwesha Sanyal, Giffin Werner, Jessie Alexander, Kathryn Torok
Publikováno v:
Clinical Immunology. 250:109490
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a72fda08f9825d382a8145697c0a1e4
https://doi.org/10.1016/j.clim.2023.109490
https://doi.org/10.1016/j.clim.2023.109490
Autor:
Paul Szabolcs, Evelyn Garchar, Xiaohua Chen, Anwesha Sanyal, Giffin Werner, Jessie L. Barnum, Kathryn Torok
Publikováno v:
Blood. 140:7701-7702
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af779c6f37cecde9e149fc81b3587834
https://doi.org/10.1182/blood-2022-167048
https://doi.org/10.1182/blood-2022-167048