يعرض 1 - 10 نتائج من 1,243 نتيجة بحث عن '"Lifton, Richard P"', وقت الاستعلام: 1.28s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    المؤلفون: Matuozzo, DanielaAff1, Aff2, Talouarn, EstelleAff1, Aff2, Marchal, AstridAff1, Aff2, Zhang, Peng, Manry, JeremyAff1, Aff2, Seeleuthner, YoannAff1, Aff2, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, AdrianAff1, Aff2, Bastard, PaulAff1, Aff2, Aff3, Asano, Takaki, Bizien, LucyAff1, Aff2, Barzaghi, Federica, Abolhassani, HassanAff7, Aff8, Tayoun, Ahmad AbouAff9, Aff10, Aiuti, AlessandroAff11, Aff12, Darazam, Ilad AlaviAff13, Aff14, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés AugustoAff3, Aff17, Aff18, Aytekin, Gokhan, Bergman, PeterAff20, Aff21, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, GiorgioAff27, Aff28, Chaïbi, KhalilAff29, Aff30, Colobran, RogerAff31, Aff32, Aff33, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, CarlosAff36, 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, DavoodAff50, Aff51, Aff52, Martinez-Picado, JavierAff53, Aff54, Aff55, Aff56, Aff57, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-EmmanuelAff59, Aff60, Morelle, Guillaume, Martin-Nalda, AndreaAff31, Aff61, Aff62, Novelli, GiuseppeAff63, Aff64, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, LauraAff68, Aff69, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, AuroraAff56, Aff68, Aff69, Reyes, Luis Felipe, Rivière, Jacques G.Aff31, Aff61, Aff62, Rodriguez-Gallego, CarlosAff72, Aff73, Rojas, Julian, Rovere-Querini, PatriziaAff12, Aff74, Schlüter, AgathaAff68, Aff69, Shahrooei, MohammadAff75, Aff76, Sobh, Ali, Soler-Palacin, PereAff31, Aff61, Aff62, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, PawelAff84, Aff85, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, HagitAff87, Aff88, Butte, Manish J., Constantinescu, Stefan N.Aff90, Aff91, Aff92, Aff93, Cooper, Megan A., Dalgard, Clifton L.Aff95, Aff96, Fellay, JacquesAff97, Aff98, Aff99, Heath, James R., Lau, Yu-Lung, Lifton, Richard P.Aff102, Aff103, Aff104, Maniatis, TomAff105, 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, PierreAff117, Aff118, Meyts, Isabelle, Zhang, Shen-YingAff1, Aff2, Aff3, Puel, AnneAff1, Aff2, Aff3, Notarangelo, Luigi D., Boisson-Dupuis, StephanieAff1, Aff2, Aff3, Su, Helen C., Boisson, BertrandAff1, Aff2, Aff3, Jouanguy, EmmanuelleAff1, Aff2, Aff3, Casanova, Jean-LaurentAff1, Aff2, Aff3, Aff121, IDs13073023012780_cor126, Zhang, QianAff1, Aff2, Aff3, Abel, LaurentAff1, Aff2, Aff3, Cobat, AurélieAff1, Aff2, Aff3, IDs13073023012780_cor129

    المصدر: Genome Medicine. 16(1)

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

    المؤلفون: Park, Ann Y.Aff1, Aff2, Leney-Greene, MichaelAff1, Aff2, Aff3, Lynberg, MatthewAff1, Aff2, Gabrielski, Justin Q.Aff1, Aff2, Xu, XijinAff1, Aff2, Schwarz, Benjamin, Zheng, LixinAff1, Aff2, Balasubramaniyam, ArasuAff1, Aff2, Aff5, Ham, HyoungjunAff2, Aff3, Chao, BrittanyAff1, Aff2, Zhang, YuAff2, Aff3, Matthews, Helen F.Aff1, Aff2, Cui, JingAff1, Aff2, Yao, YikunAff1, Aff2, Kubo, SatoshiAff1, Aff2, Chanchu, Jean MichelAff1, Aff2, Morawski, Aaron R.Aff1, Aff2, Cook, Sarah A.Aff1, Aff2, Jiang, PingAff1, Aff2, Ravell, Juan C.Aff1, Aff2, Aff6, Cheng, Yan H.Aff1, Aff2, George, AlexAff1, Aff2, Faruqi, AimanAff1, Aff2, Pagalilauan, Alison M.Aff1, Aff2, Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D.Aff1, Aff2, Aluri, JahnaviAff1, Aff2, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, CarolineAff9, Aff10, Omar, HabibAff1, Aff2, Xu, LeileiAff1, Aff2, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, ElifAff12, Aff13, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul JimenezAff16, Aff17, Aff18, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P.Aff30, Aff31, Pearce, Erika L.Aff8, Aff32, Daumke, OliverAff5, Aff33, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, KaanAff16, Aff17, Aff18, Aff37, Aff38, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, DavidAff5, Aff33, Aff39, Vilarinho, SilviaAff9, Aff10, Baris, SafaAff12, Aff13, Ozen, AhmetAff12, Aff13, Su, Helen C.Aff2, Aff3, Lenardo, Michael J.Aff1, Aff2, IDs4159002301691y_cor74

    المصدر: Nature Immunology. 25(2):282-293

    Find this article in full text from Springer Verlag. Full Text Finder
    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    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

    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

    المؤلفون: Dong, Weilai, Wong, Karen HY, Liu, Youbin, Levy-Sakin, Michal, Hung, Wei-Chien, Li, Mo, Li, Boyang, Jin, Sheng Chih, Choi, Jungmin, Lopez-Giraldez, Francesc, Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Movsesyan, Irina, Malloy, Mary J, Zhao, Hongyu, Kwok, Pui-Yan, Kane, John P, Lifton, Richard P, Pullinger, Clive R

    المصدر: Journal of Lipid Research. 63(6)

    مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Heart Disease, Biotechnology, Human Genome, Atherosclerosis, Cardiovascular, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Cholesterol, HDL, Genome-Wide Association Study, Heterozygote, Humans, Hypoalphalipoproteinemias, Exome Sequencing, dyslipidemia, genetics, HDL, LDL, lipoproteins, prebeta-1 HDL, reverse cholesterol transport, triglycerides, Biochemistry and Cell Biology, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical biochemistry and metabolomics

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/4wf7f38f

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

    المؤلفون: Zhao, ShujuanAff1, Aff2, Mekbib, Kedous Y.Aff2, Aff3, van der Ent, Martijn A., Allington, GarrettAff2, Aff5, Prendergast, Andrew, Chau, Jocelyn E., Smith, HannahAff2, Aff3, Shohfi, JohnAff2, Aff3, Ocken, Jack, Duran, Daniel, Furey, Charuta G.Aff3, Aff9, Aff10, Hao, Le Thi, Duy, Phan Q., Reeves, Benjamin C., Zhang, Junhui, Nelson-Williams, Carol, Chen, Di, Li, Boyang, Nottoli, Timothy, Bai, Suxia, Rolle, Myron, Zeng, XueAff7, Aff15, Dong, WeilaiAff12, Aff15, Fu, Po-Ying, Wang, Yung-Chun, Mane, Shrikant, Piwowarczyk, Paulina, Fehnel, Katie Pricola, See, Alfred Pokmeng, Iskandar, Bermans J., Aagaard-Kienitz, BeverlyAff17, Aff18, Moyer, Quentin J., Dennis, Evan, Kiziltug, Emre, Kundishora, Adam J., DeSpenza, Jr., Tyrone, Greenberg, Ana B. W., Kidanemariam, Seblewengel M., Hale, Andrew T., Johnston, James M., Jackson, Eric M., Storm, Phillip B.Aff22, Aff23, Lang, Shih-ShanAff22, Aff23, Butler, William E., Carter, Bob S., Chapman, Paul, Stapleton, Christopher J., Patel, Aman B., Rodesch, GeorgesAff24, Aff25, Smajda, Stanislas, Berenstein, Alejandro, Barak, Tanyeri, Erson-Omay, E. Zeynep, Zhao, HongyuAff12, Aff13, Moreno-De-Luca, Andres, Proctor, Mark R., Smith, Edward R., Orbach, Darren B.Aff16, Aff28, Alper, Seth L., Nicoli, StefaniaAff12, Aff30, Aff31, Boggon, Titus J.Aff7, Aff30, Lifton, Richard P., Gunel, Murat, King, Philip D.Aff4, IDs4146702343062z_cor64, Jin, Sheng ChihAff1, Aff32, IDs4146702343062z_cor65, Kahle, Kristopher T.Aff2, Aff3, Aff33, Aff34, IDs4146702343062z_cor66

    المصدر: Nature Communications. 14(1)

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

    المؤلفون: Kiryluk, KrzysztofAff1, Aff2, IDs4158802301422x_cor1, Sanchez-Rodriguez, Elena, Zhou, Xu-Jie, Zanoni, Francesca, Liu, Lili, Mladkova, Nikol, Khan, Atlas, Marasa, Maddalena, Zhang, Jun Y., Balderes, Olivia, Sanna-Cherchi, SimoneAff1, Aff2, Bomback, Andrew S., Canetta, Pietro A., Appel, Gerald B., Radhakrishnan, Jai, Trimarchi, Hernan, Sprangers, BenAff5, Aff6, Cattran, Daniel C., Reich, Heather, Pei, York, Ravani, Pietro, Galesic, Kresimir, Maixnerova, Dita, Tesar, Vladimir, Stengel, Benedicte, Metzger, Marie, Canaud, Guillaume, Maillard, Nicolas, Berthoux, Francois, Berthelot, Laureline, Pillebout, Evangeline, Monteiro, Renato, Nelson, Raoul, Wyatt, Robert J.Aff17, Aff18, Smoyer, William, Mahan, John, Samhar, Al-Akash, Hidalgo, Guillermo, Quiroga, Alejandro, Weng, Patricia, Sreedharan, Raji, Selewski, David, Davis, Keefe, Kallash, Mahmoud, Vasylyeva, Tetyana L., Rheault, Michelle, Chishti, Aftab, Ranch, Daniel, Wenderfer, Scott E., Samsonov, Dmitry, Claes, Donna J., Akchurin, Oleh, Goumenos, Dimitrios, Stangou, Maria, Nagy, Judit, Kovacs, Tibor, Fiaccadori, Enrico, Amoroso, Antonio, Barlassina, Cristina, Cusi, Daniele, Del Vecchio, Lucia, Battaglia, Giovanni Giorgio, Bodria, Monica, Boer, Emanuela, Bono, Luisa, Boscutti, Giuliano, Caridi, Gianluca, Lugani, Francesca, Ghiggeri, GianMarco, Coppo, Rosanna, Peruzzi, Licia, Esposito, Vittoria, Esposito, Ciro, Feriozzi, Sandro, Polci, Rosaria, Frasca, Giovanni, Galliani, Marco, Garozzo, Maurizio, Mitrotti, Adele, Gesualdo, Loreto, Granata, Simona, Zaza, Gianluigi, Londrino, Francesco, Magistroni, Riccardo, Pisani, Isabella, Magnano, Andrea, Marcantoni, Carmelita, Messa, Piergiorgio, Mignani, Renzo, Pani, Antonello, Ponticelli, Claudio, Roccatello, Dario, Salvadori, Maurizio, Salvi, Erica, Santoro, Domenico, Gembillo, Guido, Savoldi, Silvana, Spotti, Donatella, Zamboli, Pasquale, Izzi, Claudia, Alberici, Federico, Delbarba, Elisa, Florczak, Michał, Krata, Natalia, Mucha, KrzysztofAff70, Aff71, Pączek, LeszekAff70, Aff71, Niemczyk, Stanisław, Moszczuk, BarbaraAff70, Aff73, Pańczyk-Tomaszewska, Malgorzata, Mizerska-Wasiak, Malgorzata, Perkowska-Ptasińska, Agnieszka, Bączkowska, Teresa, Durlik, Magdalena, Pawlaczyk, Krzysztof, Sikora, Przemyslaw, Zaniew, Marcin, Kaminska, Dorota, Krajewska, Magdalena, Kuzmiuk-Glembin, Izabella, Heleniak, Zbigniew, Bullo-Piontecka, Barbara, Liberek, Tomasz, Dębska-Slizien, Alicja, Hryszko, Tomasz, Materna-Kiryluk, Anna, Miklaszewska, Monika, Szczepańska, Maria, Dyga, Katarzyna, Machura, Edyta, Siniewicz-Luzeńczyk, Katarzyna, Pawlak-Bratkowska, Monika, Tkaczyk, Marcin, Runowski, Dariusz, Kwella, Norbert, Drożdż, Dorota, Habura, Ireneusz, Kronenberg, Florian, Prikhodina, Larisa, van Heel, David, Fontaine, BertrandAff93, Aff94, Cotsapas, Chris, Wijmenga, Cisca, Franke, Andre, Annese, Vito, Gregersen, Peter K., Parameswaran, Sreeja, Weirauch, MatthewAff100, Aff101, Kottyan, LeahAff100, Aff101, Harley, John B., Suzuki, Hitoshi, Narita, Ichiei, Goto, Shin, Lee, Hajeong, Kim, Dong Ki, Kim, Yon Su, Park, Jin-Ho, Cho, BeLongAff107, Aff108, Choi, Murim, Van Wijk, Ans, Huerta, Ana, Ars, Elisabet, Ballarin, Jose, Lundberg, Sigrid, Vogt, Bruno, Mani, Laila-Yasmin, Caliskan, Yasar, Barratt, Jonathan, Abeygunaratne, Thilini, Kalra, Philip A., Gale, Daniel P., Panzer, Ulf, Rauen, Thomas, Floege, Jürgen, Schlosser, Pascal, Ekici, Arif B., Eckardt, Kai-UweAff122, Aff123, Chen, Nan, Xie, Jingyuan, Lifton, Richard P.Aff125, Aff126, Loos, Ruth J. F.Aff127, Aff128, Kenny, Eimear E.Aff127, Aff129, Aff130, Ionita-Laza, Iuliana, Köttgen, Anna, Julian, Bruce A., Novak, Jan, Scolari, Francesco, Zhang, Hong, Gharavi, Ali G.Aff1, Aff2, IDs4158802301422x_cor188

    المصدر: Nature Genetics. 55(7):1091-1105

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

    المؤلفون: Park, Ann Y.Aff1, Aff2, Leney-Greene, MichaelAff1, Aff2, Aff3, Lynberg, MatthewAff1, Aff2, Gabrielski, Justin Q.Aff1, Aff2, Xu, XijinAff1, Aff2, Schwarz, Benjamin, Zheng, LixinAff1, Aff2, Balasubramaniyam, ArasuAff1, Aff2, Aff5, Ham, HyoungjunAff2, Aff3, Chao, BrittanyAff1, Aff2, Zhang, YuAff2, Aff3, Matthews, Helen F.Aff1, Aff2, Cui, JingAff1, Aff2, Yao, YikunAff1, Aff2, Kubo, SatoshiAff1, Aff2, Chanchu, Jean MichelAff1, Aff2, Morawski, Aaron R.Aff1, Aff2, Cook, Sarah A.Aff1, Aff2, Jiang, PingAff1, Aff2, Ravell, Juan C.Aff1, Aff2, Aff6, Cheng, Yan H.Aff1, Aff2, George, AlexAff1, Aff2, Faruqi, AimanAff1, Aff2, Pagalilauan, Alison M.Aff1, Aff2, Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D.Aff1, Aff2, Aluri, JahnaviAff1, Aff2, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, CarolineAff9, Aff10, Omar, HabibAff1, Aff2, Xu, LeileiAff1, Aff2, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, ElifAff12, Aff13, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul JimenezAff16, Aff17, Aff18, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P.Aff30, Aff31, Pearce, Erika L.Aff8, Aff32, Daumke, OliverAff5, Aff33, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, KaanAff16, Aff17, Aff18, Aff37, Aff38, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, DavidAff5, Aff33, Aff39, Vilarinho, SilviaAff9, Aff10, Baris, SafaAff12, Aff13, Ozen, AhmetAff12, Aff13, Su, Helen C.Aff2, Aff3, Lenardo, Michael J.Aff1, Aff2, IDs4159002401779z_cor74

    المصدر: Nature Immunology. 25(4):717-717

    Find this article in full text from Springer Verlag. Full Text Finder
    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

    المؤلفون: Kundishora, Adam J., Allington, GarrettAff2, Aff3, McGee, Stephen, Mekbib, Kedous Y.Aff1, Aff3, Gainullin, Vladimir, Timberlake, Andrew T., Nelson-Williams, Carol, Kiziltug, Emre, Smith, HannahAff1, Aff3, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q., Elsamadicy, Aladine A., Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M., DiLuna, Michael L., Mane, ShrikantAff8, Aff9, Tikhonova, Irina R., Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Furey, Charuta G., Carter, Bob S., Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L.Aff13, Aff14, Gunel, Murat, Millan, Francisca, Lifton, Richard P., Torene, Rebecca I., Jin, Sheng ChihAff8, Aff15, Kahle, Kristopher T.Aff1, Aff3, Aff16, Aff17, IDs41591023022382_cor36

    المصدر: Nature Medicine. 29(3):667-678

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

    المؤلفون: Weng, Patricia, Majmundar, Amar, Khan, Kamal, Lim, Tze, Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina, Aggarwal, Vimla, Bier, Louise, Heinzen, Erin, Onuchic-Whitford, Ana, Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas, Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo, Altmüller, Janine, Benz, Marcus, Yano, Shoji, Mikati, Mohamad, Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa, Martinez-Agosto, Julian, Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, Parboosingh, Jillian, Innes, A, Bierzynska, Agnieszka, Koziell, Ania, Muorah, Mordi, Saleem, Moin, Hoefele, Julia, Riedhammer, Korbinian, Gharavi, Ali, Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor, ODonnell-Luria, Anne, Rehm, Heidi, Mane, Shrikant, DAgati, Vivette, Pollak, Martin, Ghiggeri, Gian, Lifton, Richard, Goldstein, David, Davis, Erica, Hildebrandt, Friedhelm, Sanna-Cherchi, Simone

    المصدر: American Journal of Human Genetics. 108(2)

    مصطلحات موضوعية: FSGS, SRNS, TRIM8, epilepsy, genomics, monogenic, nuclear body, Adult, Animals, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Developmental Disabilities, Epilepsy, Female, Glomerulosclerosis, Focal Segmental, Humans, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Proteins, Phenotype, Podocytes, Exome Sequencing

    وصف الملف: application/pdf

    URL الوصول: https://escholarship.org/uc/item/3g00g9hh

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

    المؤلفون: Timberlake, Andrew T.Aff1, IDs00439022024772_cor1, Kiziltug, Emre, Jin, Sheng ChihAff2, Aff3, Nelson-Williams, Carol, Loring, Erin, Allocco, August, Marlier, Arnaud, Banka, SiddharthAff5, Aff6, Stuart, HelenAff5, Aff6, Passos-Buenos, Maria Rita, Rosa, Rafael, Rogatto, Silvia R., Tonne, ElinAff10, Aff11, Stiegler, Amy L., Boggon, Titus J., Alperovich, Michael, Steinbacher, Derek, Staffenberg, David A., Flores, Roberto L., Persing, John A., Kahle, Kristopher T.Aff14, Aff15, Aff16, Lifton, Richard P.Aff2, Aff17, IDs00439022024772_cor23

    المصدر: Human Genetics. 142(1):21-32

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest Full Text Finder
    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء