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1دورية 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 T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, 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, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-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-Palacin, 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
المصدر: Genome Medicine. 15(1)
مصطلحات موضوعية: Clinical Research, Infectious Diseases, Pneumonia & Influenza, Genetics, Human Genome, Prevention, 2.1 Biological and endogenous factors, Aetiology, Humans, Young Adult, Adult, Middle Aged, COVID-19, SARS-CoV-2, Toll-Like Receptor 3, Toll-Like Receptor 7, Interferon Type I, Autoantibodies, 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, Immunity, Rare variants, Type I interferon, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/922199h2Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Yasar Caliskan, Yasemin Ozluk, Kento Kurashima, Safak Mirioglu, Ahmet Burak Dirim, Ozge Hurdogan, Ozgur Akin Oto, Marzena Syn, Mustafa Nazzal, Ajay Jain, John Edwards, Halil Yazici, Krista L. Lentine
المصدر: Genes, Vol 15, Iss 6, p 773 (2024)
مصطلحات موضوعية: Banff classification, genetics, kidney transplantation, LIMS1, T-cell mediated rejection, tubulitis, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Ozge Birsoy, Anoop Balakrishnan Rema, Satshil Rana, Rose Brannon, Aijazuddin Syed, Diana Mandelker
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100942- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424000888Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Srinivasan, Preethi, Bandlamudi, Chaitanya, Jonsson, Philip, Kemel, Yelena, Chavan, Shweta S, Richards, Allison L, Penson, Alexander V, Bielski, Craig M, Fong, Christopher, Syed, Aijazuddin, Jayakumaran, Gowtham, Prasad, Meera, Hwee, Jason, Sumer, Selcuk Onur, de Bruijn, Ino, Li, Xiang, Gao, JianJiong, Schultz, Nikolaus, Cambria, Roy, Galle, Jesse, Mukherjee, Semanti, Vijai, Joseph, Cadoo, Karen A, Carlo, Maria I, Walsh, Michael F, Mandelker, Diana, Ceyhan-Birsoy, Ozge, Shia, Jinru, Zehir, Ahmet, Ladanyi, Marc, Hyman, David M, Zhang, Liying, Offit, Kenneth, Robson, Mark E, Solit, David B, Stadler, Zsofia K, Berger, Michael F, Taylor, Barry S
المصدر: Nature Genetics. 53(11)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Rare Diseases, Cancer, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Carcinogenesis, DNA Copy Number Variations, DNA Mismatch Repair, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, Humans, Neoplasms, Phenotype, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/00k107cpTest
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6دورية أكاديمية
المؤلفون: Setton, Jeremy, Selenica, Pier, Mukherjee, Semanti, Shah, Rachna, Pecorari, Isabella, McMillan, Biko, Pei, Isaac X, Kemel, Yelena, Ceyhan-Birsoy, Ozge, Sheehan, Margaret, Tkachuk, Kaitlyn, Brown, David N, Zhang, Liying, Cadoo, Karen, Powell, Simon, Weigelt, Britta, Robson, Mark, Riaz, Nadeem, Offit, Kenneth, Reis-Filho, Jorge S, Mandelker, Diana
المصدر: NPJ breast cancer. 7(1)
مصطلحات موضوعية: Breast Cancer, Rare Diseases, Genetics, Cancer, Biotechnology, Ovarian Cancer, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8zb767kxTest
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7دورية 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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8دورية أكاديمية
المؤلفون: Fiala, Elise M, Jayakumaran, Gowtham, Mauguen, Audrey, Kennedy, Jennifer A, Bouvier, Nancy, Kemel, Yelena, Fleischut, Megan Harlan, Maio, Anna, Salo-Mullen, Erin E, Sheehan, Margaret, Arnold, Angela G, Latham, Alicia, Carlo, Maria I, Cadoo, Karen, Murkherjee, Semanti, Slotkin, Emily K, Trippett, Tanya, Glade Bender, Julia, Meyers, Paul A, Wexler, Leonard, Dela Cruz, Filemon S, Cheung, Nai-Kong, Basu, Ellen, Kentsis, Alex, Ortiz, Michael, Francis, Jasmine H, Dunkel, Ira J, Khakoo, Yasmin, Gilheeney, Stephen, Farouk Sait, Sameer, Forlenza, Christopher J, Sulis, Maria, Karajannis, Matthias, Modak, Shakeel, Gerstle, Justin T, Heaton, Todd E, Roberts, Stephen, Yang, Ciyu, Jairam, Sowmya, Vijai, Joseph, Topka, Sabine, Friedman, Danielle N, Stadler, Zsofia K, Robson, Mark, Berger, Michael F, Schultz, Nikolaus, Ladanyi, Marc, O’Reilly, Richard J, Abramson, David H, Ceyhan-Birsoy, Ozge, Zhang, Liying, Mandelker, Diana, Shukla, Neerav N, Kung, Andrew L, Offit, Kenneth, Zehir, Ahmet, Walsh, Michael F
المصدر: Nature Cancer. 2(3)
مصطلحات موضوعية: Rare Diseases, Genetic Testing, Genetics, Pediatric, Human Genome, Clinical Research, Pediatric Cancer, Cancer, Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Good Health and Well Being, Child, Genetic Predisposition to Disease, Germ Cells, Germ-Line Mutation, Humans, Neoplasms, Prospective Studies
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/11003368Test
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9دورية أكاديمية
المؤلفون: Breen, Kelsey E, Carlo, Maria I, Kemel, Yelena, Maio, Anna, Chen, Ying‐Bei, Zhang, Liying, Ceyhan‐Birsoy, Ozge, Mandelker, Diana
المصدر: Molecular Genetics & Genomic Medicine. 8(8)
مصطلحات موضوعية: Biological Sciences, Medicinal and Biomolecular Chemistry, Chemical Sciences, Genetics, Cancer, Human Genome, Kidney Disease, Clinical Research, Rare Diseases, Prevention, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Female, Fumarate Hydratase, Germ-Line Mutation, Humans, Leiomyomatosis, Male, Middle Aged, Mutation, Missense, Neoplastic Syndromes, Hereditary, Pedigree, Skin Neoplasms, Uterine Neoplasms, carcinoma, fumarate hydratase, leiomyomatosis, mutation, renal cell, Clinical Sciences, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8s56w6rrTest
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10دورية أكاديمية
المؤلفون: Mackay, Zoë P, Dukhovny, Dmitry, Phillips, Kathryn A, Beggs, Alan H, Green, Robert C, Parad, Richard B, Christensen, Kurt D, Team, BabySeq Project, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Gutierrez, Amanda M, Harden, Maegan, Holm, Ingrid A, Krier, Joel B, Lebo, Matthew S, Machini, Kalotina, McGuire, Amy L, Naik, Medha, Nguyen, Tiffany T, Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L, Roberts, Amy, Robinson, Jill O, Roumiantsev, Sergei, Schwartz, Talia S, Truong, Tina K, VanNoy, Grace E, Waisbren, Susan E, Yu, Timothy W
المصدر: Value in Health. 23(5)
مصطلحات موضوعية: Health Services and Systems, Health Sciences, Clinical Research, Human Genome, Health Services, Genetics, Patient Safety, Health and social care services research, 8.1 Organisation and delivery of services, Good Health and Well Being, Female, Genetic Testing, Genomics, Humans, Infant, Longitudinal Studies, Male, Parents, Patient Acceptance of Health Care, Risk Factors, Surveys and Questionnaires, Telephone, genetic testing, genomics, healthcare utilization, health services, humans, infant, newborn, medical records, risk factors, surveys and questionnaires, whole exome sequencing, BabySeq Project Team, Public Health and Health Services, Applied Economics, Health Policy & Services, Applied economics, Health services and systems, Policy and administration
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8b3826xrTest