المؤلفون: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, Lupski, James R

المصدر: Journal of Allergy and Clinical Immunology. 139(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8188960dTest

المؤلفون: Sullivan, Kathleen E., Bassiri, Hamid, Bousfiha, Ahmed A., Costa-Carvalho, Beatriz T., Freeman, Alexandra F., Hagin, David, Lau, Yu L., Lionakis, Michail S., Moreira, Ileana, Pinto, Jorge A., Isabel de Moraes-Pinto, M., Rawat, Amit, Reda, Shereen M., Reyes, Saul Oswaldo Lugo, Seppänen, Mikko, Tang, Mimi L. K.

المصدر: Journal of Clinical Immunology ; volume 37, issue 7, page 693-694 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-017-0436-0Test

المؤلفون: Salhi, Aicha, Chopra, Charu, Di Giovanni, Daniela, Bezrodnik, Liliana, Boutros, Jeannette, Thomas, Caroline, Lacuesta, Gina, Jannier, Sarah, Korganow, Anne-Sophie, Paillard, Catherine, Boutboul, David, Bue, Melanie, Marie-Cardine, Aude, Bayart, Sophie, Migaud, Melanie, Weiss, Laurence, Karmochkine, Marina, Garcia-Martinez, Juan-Miguel, Stephan, Jean-Louis, Bensaid, Philippe, Jaennoel, Guy-Patrick, Witte, Torsten, Baumann, Ulrich, Harrer, Thomas, Lilic, Desa, Ayvaz, DENİZ NAZİRE, Toulon, Antoine, Thumerelle, Caroline, Cypowyj, Sophie, Puel, Anne, Casanova, Jean-Laurent, Holland, Steven, Milner, Joshua D., Kobayashi, Masao, Morio, Tomohiro, Marodi, Laszlo, Picard, Capucine, Traidl-Hoffmann, Claudia, van de Veerdonk, Frank L., Grimbacher, Bodo, Rosenzweig, Sergio, Renner, Ellen D., Reichenbach, Janine, Kisand, Kai, Meyts, Isabelle, Rodriguez-Gallego, Carlos, Bousfiha, Aziz, Blanche, Stephane, Belohradsky, Bernd, Kerns, Leigh Ann, Camcioglu, Yildiz, Van Montfrans, Joris, Etzioni, Amos, Girisha, Katta Mohan, Fouyssac, Fanny, Ouachee-Chardin, Marie, Aldave Becerra, Juan Carlos, Lagos Gomez, Macarena, Oleastro, Matias, Hiller, Julia, Okada, Satoshi, Toubiana, Julie, Netea, Mihai G., Marciano, Beatriz E., Abel, Laurent, Boisson-Dupuis, Stephanie, Peterson, Part, Yuenyongviwat, Araya, Roifman, Chaim, Church, Joseph A., Fieschi, Claire, Lortholary, Olivier, Lanternier, Fanny, Roesler, Joachim, Kilic, Sara Sebnem, Sanal, Ozden, Hoste, Levi, Dullaers, Melissa, Haerynck, Filomeen, Moens, Leen, Patel, Smita Y., Dhalla, Fatima, Kocacyk, Dilara, Debre, Marianne, Hermine, Olivier, Fischer, Alain, Burgel, Pierre-Regis, Grimprel, Emmanuel, Polak, Michel, Bodemer, Christine, Ben Mustapha, Imen, Barbouche, Ridha, Mekki, Najla, Henriet, Stefanie, Warris, Adilia, Cant, Andrew J., Gennery, Andrew R., Arkwright, Peter D., Schaller, Martin, Eyerich, Kilian, Buhl, Timo, Reich, Kristian, Logering, Birgit, Hayakawa, Akira, Takeuchi, Masato, Ozaki, Yusuke, Mizoguchi, Yoko, Okawa, Teppei, Imai, Kohsuke, Bougnoux, Marie-Elisabeth, Del Giacco, Stefano, Giardino, Giuliana, Ailal, Fatima, Boubidi, Chahinez, Neven, Benedicte, Moshous, Despina, Bondarenko, Anastasia, Chernyshova, Liudmyla, Shabashova, Nadejda, Jansson, Annette F., Schnopp, Christina, Soltesz, Beata, Badolato, Raffaele, Taur, Prasad, Desai, Mukesh M., Wallace, Mark, Ferdman, Ronald M., Meuwissen, Hilaire, Leonard, Stephanie, Willis, Mary, Tucker, Mark, Talas, Ulvi Gerst, Remm, Maido, Nikopensius, Tiit, Milani, Lili, Depner, Mark, Kindle, Gerhard, Sawalle-Belohradsky, Julie, Abinum, Mario, Drewe, Elizabeth, Hoernes, Miriam, Lesens, Olivier, Rohrlich, Pierre Simon, Drexel, Barbara, Toth, Beata, Blancas-Galicia, Lizbeth, Bouchaib, Jabir, Miron, Dan, Spiegel, Ronen, Haimi-Cohen, Yishai, Revon-Riviere, Gabriel, Barlogis, Vincent, Pac, Malgorzata, Zoghi, Samaneh, Rezaei, Nima, Martinez-Saavedra, Maia Teresa, Espanol, Teresa, Nabavi, Mohammad, Mesdaghi, Mehrnaz, Cortina, Mariana, Ortega-Cisneros, Margarita, Lozano, Carlos Torres, Reyes, Saul Oswaldo Lugo, Mendoza, David, Picco, Paolo, Pignata, Claudio, Firinu, Davide, Benjamin, Antony Terance, Navarrete, Carmen, Tahuil, Natalia, Bustamante, Jacinta, Boiu, Sorina

العلاقة: 3d788109-4c95-4f59-b50f-cf99058961ce; https://avesis.hacettepe.edu.tr/publication/details/3d788109-4c95-4f59-b50f-cf99058961ce/oaiTest

الإتاحة: https://doi.org/10.1182/blood-2015-11-679902Test
https://avesis.hacettepe.edu.tr/publication/details/3d788109-4c95-4f59-b50f-cf99058961ce/oaiTest

المؤلفون: Randall, Katrina L., Chan, Stephanie S.-Y., Ma, Cindy S., Fung, Ivan, Mei, Yan, Yabas, Mehmet, Tan, Andy, Arkwright, Peter D., Al Suwairi, Wafaa, Reyes, Saul Oswaldo Lugo, Yamazaki-Nakashimada, Marco A., Garcia-Cruz, Maria de la Luz, Smart, Joanne M., Picard, Capucine, Okada, Satoshi, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Lambe, Teresa, Cornall, Richard J., Russell, Sarah, Oliaro, Jane, Tangye, Stuart G., Bertram, Edward M., Goodnow, Christopher C.

المساهمون: Swinburne University of Technology

المصدر: Journal of Experimental Medicine, Vol. 208, no. 11 (Oct 2011), pp. 2305-2320

العلاقة: http://hdl.handle.net/1959.3/208698Test; https://doi.org/10.1084/jem.20110345Test

الإتاحة: https://doi.org/10.1084/jem.20110345Test
http://hdl.handle.net/1959.3/208698Test

المؤلفون: Jaramillo, Lina Maria Castano, Nakashimada, Marco Yamazaki, Mendoza, Selma C Scheffler, Ogando, Juan Carlos Bustamante, Espinosa, Sara, Reyes, Saul Oswaldo Lugo

الإتاحة: https://doi.org/10.22541/au.159170773.34049082Test

المؤلفون: Boone, Aidé Tamara Staines, Gonzalez-Villareal, Guadalupe, Pompa-Garza, Maria Teresa, Muñiz-Ronquillo, Teodoro, Sandoval-Gonzalez, Adriana Carolina, Muzquiz-Zermeño, David, Padilla-Castro, Marco Antonio, García-Campos, Jorge Alberto, Sanchez-Sanchez, Luz Maria, Montoya, Edna Venegas, Reyes, Saul Oswaldo Lugo

الإتاحة: https://doi.org/10.22541/au.160218202.26794163/v1Test

المؤلفون: Sullivan, Kathleen E., Bassiri, Hamid, Bousfiha, Ahmed A., Costa-Carvalho, Beatriz T., Freeman, Alexandra F., Hagin, David, Lau, Yu L., Lionakis, Michail S., Moreira, Ileana, Pinto, Jorge A., de Moraes-Pinto, M. Isabel, Rawat, Amit, Reda, Shereen M., Reyes, Saul Oswaldo Lugo, Seppänen, Mikko, Tang, Mimi L. K.

المصدر: Journal of Clinical Immunology ; volume 37, issue 7, page 650-692 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-017-0426-2Test

المؤلفون: van de Veerdonk, Frank L., Kisand, Kai, Reichenbach, Janine, Renner, Ellen D., Rosenzweig, Sergio, Grimbacher, Bodo, Traidl-Hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D., Holland, Steven, Casanova, Jean-Laurent, Puel, Anne, Cypowyj, Sophie, Thumerelle, Caroline, Toulon, Antoine, Bustamante, Jacinta, Tahuil, Natalia, Salhi, Aicha, Boiu, Sorina, Chopra, Charu, Di Giovanni, Daniela, Bezrodnik, Liliana, Boutros, Jeannette, Thomas, Caroline, Lacuesta, Gina, Jannier, Sarah, Camcioglu, Yildiz, Bue, Melanie, Marie-Cardine, Aude, Bayart, Sophie, Migaud, Melanie, Weiss, Laurence, Karmochkine, Marina, Garcia-Martinez, Juan-Miguel, Stephan, Jean-Louis, Bensaid, Philippe, Jaennoel, Guy-Patrick, Witte, Torsten, Baumann, Ulrich, Harrer, Thomas, Navarrete, Carmen, Benjamin, Antony Terance, Firinu, Davide, Pignata, Claudio, Picco, Paolo, Mendoza, David, Reyes, Saul Oswaldo Lugo, Lozano, Carlos Torres, Ortega-Cisneros, Margarita, Cortina, Mariana, Mesdaghi, Mehrnaz, Nabavi, Mohammad, Espanol, Teresa, Martinez-Saavedra, Maia Teresa, Rezaei, Nima, Zoghi, Samaneh, Pac, Malgorzata, Barlogis, Vincent, Revon-Riviere, Gabriel, Haimi-Cohen, Yishai, Spiegel, Ronen, Miron, Dan, Bouchaib, Jabir, Blancas-Galicia, Lizbeth, Toth, Beata, Drexel, Barbara, Rohrlich, Pierre Simon, Lesens, Olivier, Hoernes, Miriam, Drewe, Elizabeth, Abinum, Mario, Sawalle-Belohradsky, Julie, Kindle, Gerhard, Depner, Mark, Milani, Lili, Nikopensius, Tiit, Remm, Maido, Talas, Ulvi Gerst, Tucker, Mark, Willis, Mary, Leonard, Stephanie, Meuwissen, Hilaire, Ferdman, Ronald M., Wallace, Mark, Desai, Mukesh M., Taur, Prasad, Badolato, Raffaele, Soltesz, Beata, Schnopp, Christina, Jansson, Annette F., Ayvaz, Deniz, Shabashova, Nadejda, Chernyshova, Liudmyla, Bondarenko, Anastasia, Moshous, Despina, Neven, Benedicte, Boubidi, Chahinez, Ailal, Fatima, Giardino, Giuliana, Del Giacco, Stefano, Bougnoux, Marie-Elisabeth, Imai, Kohsuke, Okawa, Teppei, Mizoguchi, Yoko, Ozaki, Yusuke, Takeuchi, Masato, Hayakawa, Akira, Logering, Birgit, Reich, Kristian, Buhl, Timo, Eyerich, Kilian, Schaller, Martin, Arkwright, Peter D., Gennery, Andrew R., Cant, Andrew J., Warris, Adilia, Henriet, Stefanie, Mekki, Najla, Barbouche, Ridha, Ben Mustapha, Imen, Bodemer, Christine, Polak, Michel, Grimprel, Emmanuel, Burgel, Pierre-Regis, Fischer, Alain, Hermine, Olivier, Debre, Marianne, Kocacyk, Dilara, Dhalla, Fatima, Patel, Smita Y., Moens, Leen, Haerynck, Filomeen, Dullaers, Melissa, Hoste, Levi, Sanal, Ozden, Kilic, Sara Sebnem, Roesler, Joachim, Lanternier, Fanny, Lortholary, Olivier, Fieschi, Claire, Church, Joseph A., Roifman, Chaim, Yuenyongviwat, Araya, Peterson, Part, Boisson-Dupuis, Stephanie, Abel, Laurent, Marciano, Beatriz E., Netea, Mihai G., Korganow, Anne-Sophie, Paillard, Catherine, Boutboul, David, Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachee-Chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stephane, Bousfiha, Aziz, Rodriguez-Gallego, Carlos, Meyts, Isabelle

المساهمون: 233287

مصطلحات موضوعية: HEMATOLOJİ, Hematoloji, İç Hastalıkları, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıp, Klinik Tıp (MED), Klinik Tıp

العلاقة: BLOOD; Toubiana J., Okada S., Hiller J., Oleastro M., Lagos Gomez M., Aldave Becerra J. C. , Ouachee-Chardin M., Fouyssac F., Girisha K. M. , Etzioni A., et al., "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype", BLOOD, cilt.127, sa.25, ss.3154-3164, 2016; vv_1032021; av_3d788109-4c95-4f59-b50f-cf99058961ce; http://hdl.handle.net/20.500.12627/45209Test; https://doi.org/10.1182/blood-2015-11-679902Test; 127; 25; 3154; 3164

الإتاحة: https://doi.org/20.500.12627/45209Test
https://doi.org/10.1182/blood-2015-11-679902Test
https://hdl.handle.net/20.500.12627/45209Test

المؤلفون: Alvarez-Cardona, Aristoteles, Espinosa-Padilla, Sara Elva, Reyes, Saul Oswaldo Lugo, Ventura-Juarez, Javier, Lopez-Valdez, Jaime Asael, Martínez-Medina, Lucila, Santillan-Artolozaga, Alberto, Cajero-Avelar, Adriana, De Luna-Sosa, Alma R., Torres-Bernal, Luis F., Espinosa-Rosales, Francisco J.

المصدر: Journal of Clinical Immunology ; volume 36, issue 3, page 173-178 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-016-0242-0Test

المؤلفون: Ogando, Juan Carlos Bustamante, Tello, Héctor Gómez, Serrano, María Edith González, Hernández, Alonso Gutiérrez, Bautista, Víctor Manuel Hernández, Escoto, Gabriele Ivankovich, King, Alejandra, Mazzucchelli, Juliana Lessa, Guillén, Beatriz Adriana Llamas, Reyes, Saul Oswaldo Lugo

مصطلحات موضوعية: IMUNODEFICIÊNCIA DE VARIÁVEL COMUM, SÍNDROME DE IMUNODEFICIÊNCIA ADQUIRIDA, CÉLULAS-TRONCO, IMUNOGENÉTICA, PACIENTES

العلاقة: https://doi.org/10.1016/j.jaci.2019.08.002Test

الإتاحة: https://doi.org/10.1016/j.jaci.2019.08.002Test