المؤلفون: Savage, Sarah, LoTempio, Jonathan, Smith, Erica, Andrew, E, Mas, Gloria, Kahn-Kirby, Amanda, Délot, Emmanuèle, Cohen, Andrea, Pitsava, Georgia, Nussbaum, Robert, Fusaro, Vincent, Berger, Seth, Vilain, Eric

المصدر: Journal of the American Medical Informatics Association. 31(2)

مصطلحات موضوعية: chatbot, genetic counseling, genomics, informed consent, large-scale research, Humans, Prospective Studies, Informed Consent, Genomics, Software, Communication

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2sp275d9Test

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:155242483Test

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:236324795Test

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)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/8a927eb5859b43cf96c9c3e30c509b07Test

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:153579619Test

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147606350Test

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

الوصول الحر: https://doaj.org/article/86e4db2aa39842caa8f2f5c9e6d95290Test

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, Martínez Picado, Francisco Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martín-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-Palacín, 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

الإتاحة: https://ddd.uab.cat/record/281407Test

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

الإتاحة: https://doi.org/10.1111/cge.14360Test

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