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1دورية أكاديمية
المؤلفون: Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Tayoun, AA, Aiuti, A, Darazam, IA, Allende, LM, Alonso-Arias, R, Arias, AA, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, YT, Bustos, IG, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaibi, K, Colobran, R, Condino-Neto, A, Covill, LE, Delmonte, OM, Zein, LE, Flores, C, Gregersen, PK, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarstrom, L, Hatipoglu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, JL, Mansouri, D, Martinez-Picado, J, Akcan, OM, Migeotte, I, Morange, PE, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarstrom, Q, de Diego, RP, Planas-Serra, L, Pleguezuelo, DE, Prando, C, Pujol, A, Reyes, LF, Riviere, JG, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schluter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, SZ, Alosaimi, MF, Alsohime, FM, Baris-Feldman, H, Butte, MJ, Constantinescu, SN, Cooper, MA, Dalgard, CL, Fellay, J, Heath, JR, Lau, YL, Lifton, RP, Maniatis, T, Mogensen, TH, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, JF, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, SY, Puel, A, Notarangelo, LD, Boisson-Dupuis, S, Su, HC, Boisson, B, Jouanguy, E, Casanova, JL, Zhang, Q, Abel, L, Cobat, A
المصدر: Genome medicine. 16(1):6
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Matuozzo, D, Talouarn, E, Marchal, A, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Zhang, P, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Tayoun, AA, Aiuti, A, Darazam, IA, Allende, LM, Alonso-Arias, R, Arias, AA, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, YT, Bustos, IG, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, LE, El Zein, L, Flores, C, Gregersen, PK, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, JL, Mansouri, D, Martinez-Picado, J, Akcan, OM, Migeotte, I, Morange, PE, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarström, Q, Pérez de Diego, R, Planas-Serra, L, Pleguezuelo, DE, Prando, C, Pujol, A, Reyes, LF, Rivière, JG, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schlüter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, SZ, Baris-Feldman, H, Butte, MJ, Constantinescu, SN, Cooper, MA, Dalgard, CL, Fellay, J, Heath, JR, Lau, YL, Lifton, RP, Maniatis, T, Mogensen, TH, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, JF, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, SY, Puel, A, Notarangelo, LD, Boisson-Dupuis, S, Su, HC, Boisson, B, Jouanguy, E, Casanova, JL, Zhang, Q, Abel, L, Cobat, A
المصدر: medRxiv : the preprint server for health sciences.
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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4دورية أكاديمية
المؤلفون: Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, LM, Alonso-Arias, R, Arias, AA, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, YT, Bustos, IG, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaibi, K, Colobran, R, Condino-Neto, A, Covill, LE, Delmonte, OM, El Zein, L, Flores, C, Gregersen, PK, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarstrom, L, Hatipoglu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, JL, Mansouri, D, Martinez-Picado, J, Metin Akcan, O, Migeotte, I, Morange, PE, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarstrom, Q, de Diego, RP, Planas-Serra, L, Pleguezuelo, DE, Prando, C, Pujol, A, Reyes, LF, Riviere, JG, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schluter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, SZ, Alosaimi, MF, Alsohime, FM, Baris-Feldman, H, Butte, MJ, Constantinescu, SN, Cooper, MA, Dalgard, CL, Fellay, J, Heath, JR, Lau, YL, Lifton, RP, Maniatis, T, Mogensen, TH, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, JF, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Effort, CHG, Meyts, I, Zhang, SY, Puel, A, Notarangelo, LD, Boisson-Dupuis, S, Su, HC, Boisson, B, Jouanguy, E, Casanova, JL, Zhang, Q, Abel, L, Cobat, A
المصدر: Genome medicine. 15(1):22
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Renkilaraj, MRLM, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, AL, Ogishi, M, Pelham, SJ, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacin, P, Colobran, R, Martin-Nalda, A, Riviere, JG, Tandjaoui-Lambiotte, Y, Chaibi, K, Shahrooei, M, Darazam, IA, Olyaei, NA, Mansouri, D, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Franco, JL, Rojas, J, Reyes, LF, Bustos, IG, Arias, AA, Morelle, G, Kyheng, C, Troya, J, Planas-Serra, L, Schluter, A, Gut, M, Pujol, A, Allende, LM, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, DE, de Diego, RP, Keles, S, Aytekin, G, Akcan, OM, Bryceson, YT, Bergman, P, Brodin, P, Smole, D, Smith, CIE, Norlin, AC, Campbell, TM, Covill, LE, Hammarstrom, L, Pan-Hammarstrom, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, AN, Dalgard, CL, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, AL, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, SY, Beziat, V, Lifton, RP, Bastard, P, Notarangelo, LD, Abel, L, Su, HC, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, JL
المصدر: Science immunology. 6(62)
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
مصطلحات موضوعية: Rare variants, COVID-19, Immunity, Type I interferon, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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7دورية أكاديمية
المؤلفون: Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan, Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobrán Oriol, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, HatipoÄŸlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, MartÃnez Picado, Francisco Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, MartÃn-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-PalacÃn, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi, Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, Cobat, Aurélie, Universitat Autònoma de Barcelona
مصطلحات موضوعية: COVID-19, Immunity, Rare variants, Type I interferon
وصف الملف: application/pdf
العلاقة: Instituto de Salud Carlos III PI20/00876; Genome Medicine; Vol. 15 (april 2023); https://ddd.uab.cat/record/281407Test; urn:10.1186/s13073-023-01173-8; urn:oai:ddd.uab.cat:281407; urn:pmcid:PMC10074346; urn:pmc-uid:10074346; urn:pmid:37020259; urn:oai:pubmedcentral.nih.gov:10074346; urn:oai:egreta.uab.cat:publications/ffa02211-afe8-4f8a-9973-aaeff15f0d47
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8دورية أكاديمية
المؤلفون: Berger, Seth I., Pitsava, Georgia, Cohen, Andrea J., Délot, Emmanuèle C., LoTempio, Jonathan, Andrew, Erin Hallie, Martin, Gloria Mas, Marmolejos, Sofia, Albert, Jessica, Meltzer, Beatrix, Fraser, Jamie, Regier, Debra S., Kahn‐Kirby, Amanda H., Smith, Erica, Knoblach, Susan, Ko, Arthur, Fusaro, Vincent A., Vilain, Eric
المساهمون: National Human Genome Research Institute
المصدر: Clinical Genetics ; volume 104, issue 3, page 377-383 ; ISSN 0009-9163 1399-0004
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9دورية أكاديمية
المؤلفون: Savage, Sarah K, LoTempio, Jonathan, Smith, Erica D, Andrew, E Hallie, Mas, Gloria, Kahn-Kirby, Amanda H, Délot, Emmanuèle, Cohen, Andrea J, Pitsava, Georgia, Nussbaum, Robert, Fusaro, Vincent A, Berger, Seth, Vilain, Eric
المساهمون: Children’s National Research Institute, Invitae Corporation, University of California Irvine, National Human Genome Research Institute, The Institute for Clinical and Translational Science, University of California, National Center for Advancing Translational Sciences, NIH
المصدر: Journal of the American Medical Informatics Association ; volume 31, issue 2, page 472-478 ; ISSN 1067-5027 1527-974X
مصطلحات موضوعية: Health Informatics
الإتاحة: https://doi.org/10.1093/jamia/ocad181Test
https://academic.oup.com/jamia/article-pdf/31/2/472/56209430/ocad181.pdfTest -
10دورية أكاديمية
المؤلفون: Savage, Sarah K, LoTempio, Jonathan, Smith, Erica D, Andrew, E Hallie, Mas, Gloria, Kahn-Kirby, Amanda H, Délot, Emmanuèle, Cohen, Andrea J, Pitsava, Georgia, Nussbaum, Robert, Fusaro, Vincent A, Berger, Seth, Vilain, Eric
المصدر: Journal of the American Medical Informatics Association; Feb2024, Vol. 31 Issue 2, p472-478, 7p