المؤلفون: Karayol, Remzi, Borroto, Maria, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann, Mulligan, Meghan, Bicknell, Louise, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin, Shashi, Vandana, Sullivan, Jennifer, Peron, Angela, Iascone, Maria, Canevini, Maria, Friedman, Jennifer, Reyes, Iris, Kierstein, Janell, Shen, Joseph, Ahmed, Faria, Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna, Monaghan, Kristin, Rousseau, Justine, Myers, Kenneth, Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe

المصدر: American Journal of Human Genetics. 111(7)

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome, Adolescent, Child, Child, Preschool, Female, Humans, Male, Developmental Disabilities, DNA Methylation, Epigenesis, Genetic, Epilepsy, Histones, Induced Pluripotent Stem Cells, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Ubiquitin-Protein Ligases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4qw4q94w
https://escholarship.org/content/qt4qw4q94w/qt4qw4q94w.pdf

المؤلفون: Barel, Dalit^{Aff1, IDs00415024123683_cor1}, Marom, Daphna^{Aff1, Aff3}, Ponger, Penina^{Aff1, Aff2}, Kurolap, Alina, Bar-Shira, Anat, Kaplan-Ber, Idit, Mory, Adi, Abramovich, Beatrice, Yaron, Yuval^{Aff1, Aff3}, Drory, Vivian^{Aff2, Aff3}, Baris Feldman, Hagit^{Aff1, Aff3, IDs00415024123683_cor11}

المصدر: Journal of Neurology. 271(7):4258-4266

المؤلفون: Falah, Ghadeer, Kurolap, Alina, Paperna, Tamar, Ekhilevitch, Nina, Moustafa, Nivin, Damouny-Naoum, Nadine, Amir, Yam, Sharvit, Lital, Moghrabi, Rihan, Hassoun, Gamal, Fares, Fuad, Baris Feldman, Hagit^{Aff2, Aff5}, Atzmon, Gil^{Aff1, Aff6, IDs41598024722402_cor13}

المصدر: Scientific Reports. 14(1)

المؤلفون: Matuozzo, Daniela^{Aff1, Aff2}, Talouarn, Estelle^{Aff1, Aff2}, Marchal, Astrid^{Aff1, Aff2}, Zhang, Peng, Manry, Jeremy^{Aff1, Aff2}, Seeleuthner, Yoann^{Aff1, Aff2}, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian^{Aff1, Aff2}, Bastard, Paul^{Aff1, Aff2, Aff3}, Asano, Takaki, Bizien, Lucy^{Aff1, Aff2}, Barzaghi, Federica, Abolhassani, Hassan^{Aff7, Aff8}, Tayoun, Ahmad Abou^{Aff9, Aff10}, Aiuti, Alessandro^{Aff11, Aff12}, Darazam, Ilad Alavi^{Aff13, Aff14}, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto^{Aff3, Aff17, Aff18}, Aytekin, Gokhan, Bergman, Peter^{Aff20, Aff21}, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio^{Aff27, Aff28}, Chaïbi, Khalil^{Aff29, Aff30}, Colobran, Roger^{Aff31, Aff32, Aff33}, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, Carlos^{Aff36, Aff37, Aff38, Aff39}, 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^{Aff50, Aff51, Aff52}, Martinez-Picado, Javier^{Aff53, Aff54, Aff55, Aff56, Aff57}, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-Emmanuel^{Aff59, Aff60}, Morelle, Guillaume, Martin-Nalda, Andrea^{Aff31, Aff61, Aff62}, Novelli, Giuseppe^{Aff63, Aff64}, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura^{Aff68, Aff69}, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora^{Aff56, Aff68, Aff69}, Reyes, Luis Felipe, Rivière, Jacques G.^{Aff31, Aff61, Aff62}, Rodriguez-Gallego, Carlos^{Aff72, Aff73}, Rojas, Julian, Rovere-Querini, Patrizia^{Aff12, Aff74}, Schlüter, Agatha^{Aff68, Aff69}, Shahrooei, Mohammad^{Aff75, Aff76}, Sobh, Ali, Soler-Palacin, Pere^{Aff31, Aff61, Aff62}, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel^{Aff84, Aff85}, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit^{Aff87, Aff88}, Butte, Manish J., Constantinescu, Stefan N.^{Aff90, Aff91, Aff92, Aff93}, Cooper, Megan A., Dalgard, Clifton L.^{Aff95, Aff96}, Fellay, Jacques^{Aff97, Aff98, Aff99}, Heath, James R., Lau, Yu-Lung, Lifton, Richard P.^{Aff102, Aff103, Aff104}, Maniatis, Tom^{Aff105, Aff106}, Mogensen, Trine H.^{Aff107, Aff108}, 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^{Aff117, Aff118}, Meyts, Isabelle, Zhang, Shen-Ying^{Aff1, Aff2, Aff3}, Puel, Anne^{Aff1, Aff2, Aff3}, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie^{Aff1, Aff2, Aff3}, Su, Helen C., Boisson, Bertrand^{Aff1, Aff2, Aff3}, Jouanguy, Emmanuelle^{Aff1, Aff2, Aff3}, Casanova, Jean-Laurent^{Aff1, Aff2, Aff3, Aff121, IDs13073023012780_cor126}, Zhang, Qian^{Aff1, Aff2, Aff3}, Abel, Laurent^{Aff1, Aff2, Aff3}, Cobat, Aurélie^{Aff1, Aff2, Aff3, IDs13073023012780_cor129}

المصدر: Genome Medicine. 16(1)

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

URL الوصول: https://escholarship.org/uc/item/922199h2

المؤلفون: Ercan, Ayse Bahar, Aronson, Melyssa, Fernandez, Nicholas R, Chang, Yuan, Levine, Adrian, Liu, Zhihui Amy, Negm, Logine, Edwards, Melissa, Bianchi, Vanessa, Stengs, Lucie, Chung, Jiil, Al-Battashi, Abeer, Reschke, Agnes, Lion, Alex, Ahmad, Alia, Lassaletta, Alvaro, Reddy, Alyssa T, Al-Darraji, Amir F, Shah, Amish C, Van Damme, An, Bendel, Anne, Rashid, Aqeela, Margol, Ashley S, Kelly, Bethany L, Pencheva, Bojana, Heald, Brandie, Lemieux-Anglin, Brianna, Crooks, Bruce, Koschmann, Carl, Gilpin, Catherine, Porter, Christopher C, Gass, David, Samuel, David, Ziegler, David S, Blumenthal, Deborah T, Kuo, Dennis John, Hamideh, Dima, Basel, Donald, Khuong-Quang, Dong-Anh, Stearns, Duncan, Opocher, Enrico, Carceller, Fernando, Baris Feldman, Hagit, Toledano, Helen, Winer, Ira, Scheers, Isabelle, Fedorakova, Ivana, Su, Jack M, Vengoechea, Jaime, Sterba, Jaroslav, Knipstein, Jeffrey, Hansford, Jordan R, Gonzales-Santos, Julieta Rita, Bhatia, Kanika, Bielamowicz, Kevin J, Minhas, Khurram, Nichols, Kim E, Cole, Kristina A, Penney, Lynette, Hjort, Magnus Aasved, Sabel, Magnus, Gil-da-Costa, Maria Joao, Murray, Matthew J, Miller, Matthew, Blundell, Maude L, Massimino, Maura, Al-Hussaini, Maysa, Al-Jadiry, Mazin F, Comito, Melanie A, Osborn, Michael, Link, Michael P, Zapotocky, Michal, Ghalibafian, Mithra, Shaheen, Najma, Mushtaq, Naureen, Waespe, Nicolas, Hijiya, Nobuko, Fuentes-Bolanos, Noemi, Ahmad, Olfat, Chamdine, Omar, Roy, Paromita, Pichurin, Pavel N, Nyman, Per, Pearlman, Rachel, Auer, Rebecca C, Sukumaran, Reghu K, Kebudi, Rejin, Dvir, Rina, Raphael, Robert, Elhasid, Ronit, McGee, Rose B, Chami, Rose, Noss, Ryan, Tanaka, Ryuma, Raskin, Salmo, Sen, Santanu, Lindhorst, Scott, Perreault, Sebastien, Caspi, Shani, Riaz, Shazia, Constantini, Shlomi, Albert, Sophie, Chaleff, Stanley, Bielack, Stefan, Chiaravalli, Stefano, Cramer, Stuart Louis, Roy, Sumita, Cahn, Suzanne, Penna, Suzanne, Hamid, Syed Ahmer, Ghafoor, Tariq, Imam, Uzma, Larouche, Valerie, Magimairajan Issai, Vanan, Foulkes, William D, Lee, Yi Yen, Nathan, Paul C, Maruvka, Yosef E, Greer, Mary-Louise C, Durno, Carol, Shlien, Adam, Ertl-Wagner, Birgit, Villani, Anita, Malkin, David, Hawkins, Cynthia, Bouffet, Eric, Das, Anirban, Tabori, Uri ^*

المصدر: In The Lancet Oncology May 2024 25(5):668-682

المؤلفون: Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina^{Aff3, Aff6}, Weiss, Karin^{Aff4, Aff7}, Singer, Amihood, Yaron, Yuval^{Aff2, Aff6}, Baris Feldman, Hagit^{Aff2, Aff6, IDs4024602300472w_cor13}

المصدر: Human Genomics. 17(1)

المؤلفون: Kurolap, Alina, Hagin, David^{Aff2, Aff3}, Freund, Tal, Fishman, Sigal^{Aff3, Aff4}, Zunz Henig, Noa, Brazowski, Eli, Yeshaya, Josepha, Naiman, Tova, Pras, Elon^{Aff3, Aff7}, Ablin, Jacob N.^{Aff3, Aff8}, Baris Feldman, Hagit^{Aff1, Aff3, IDs00439021024283_cor11}

المصدر: Human Genetics. 142(5):683-690

المؤلفون: Mistry, Pramod K, Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P, Baris Feldman, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Foster, Meredith C, Gaemers, Sebastiaan JM, Peterschmitt, M Judith

المصدر: American journal of hematology. 96(9)

مصطلحات موضوعية: Liver, Spleen, Humans, Gaucher Disease, Pyrrolidines, Enzyme Inhibitors, Organ Size, Treatment Outcome, Double-Blind Method, Placebo Effect, Adult, Female, Male, Young Adult, Clinical Research, Rare Diseases, Hematology, 6.1 Pharmaceuticals, Immunology, Cardiorespiratory Medicine and Haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/88h92743

المؤلفون: Kurolap, Alina, Barel, Dalit, Shaul Lotan, Nava, Wexler, Isaiah, Chai Gadot, Chofit, Mory, Adi, Barel, Ortal, Almashanu, Shlomo, Baris Feldman, Hagit

المصدر: In Molecular Genetics and Metabolism November 2023 140(3)