检索结果 - Reisli, Ismail
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Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities 由 IJspeert, Hanna, Warris, Adilia, Flier, Michiel, Reisli, Ismail, Keles, Sevgi, Chishimba, Sandra, Dongen, Jacques JM, Gent, Dik C, Burg, Mirjam
出版 2013Text -
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Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome 由 Lun, Melody P., Shannon, Morgan L., Keles, Sevgi, Reisli, Ismail, Luche, Nicole, Ryan, Douglas, Capuder, Kelly, Notarangelo, Luigi D., Lehtinen, Maria K.
出版 2019Text -
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Molecular dissection of human b-cell tolerance - insights from primary immunodeficiencies 由 Morbach, Henner, Meyers, Greta, Ng, Yen-Shing, Schickel, Jean-Nicolas, Menard, Laurence, Rudchenko, Sergei, Rojas, Jessica, Cunningham-Rundles, Charlotte, Conley, Mary, Reisli, Ismail, Franco, Jose, Meffre, Eric
出版 2014Text -
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Plasmacytoid Dendritic Cell Depletion in DOCK8 Deficiency: Rescue of Severe Herpetic Infections with Interferon Alpha-2b Therapy 由 Keles, Sevgi, Jabara, Haifa H., Reisli, Ismail, McDonald, Douglas R., Barlan, Isil, Hanna-Wakim, Rima, Dbaibo, Ghassan, Lefranc, Gerard, Al-Herz, Waleed, Geha, Raif S., Chatila, Talal A.
出版 2014Text -
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Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1 由 Cui, Ye, Keles, Sevgi, Charbonnier, Louis-Marie, Julé, Amélie M., Henderson, Lauren, Celik, Seyma Celikbilek, Reisli, Ismail, Shen, Chen, Xie, Wen Jun, Schmitz-Abe, Klaus, Wu, Hao, Chatila, Talal A.
出版 2019Text -
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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency 由 Felgentreff, Kerstin, Lee, Yu Nee, Frugoni, Francesco, Du, Likun, van der Burg, Mirjam, Giliani, Silvia, Tezcan, Ilhan, Reisli, Ismail, Mejstrikova, E, Villartay, JP, Sleckman, Barry P, Manis, John, Notarangelo, Luigi D
出版 2015Text -
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DOCK8 Regulates STAT3 Activation and Promotes Th17 Cell Differentiation 由 Keles, Sevgi, Charbonnier, Louis Marie, Kabaleeswaran, Venkataraman, Reisli, Ismail, Genel, Ferah, Gulez, Nesrin, Al-Herz, Waleed, Ramesh, Narayanaswamy, Perez-Atayde, Antonio, Eeder, Neslihan Karaca, Kutukculer, Necil, Wu, Hao, Geha, Raif S., Chatila, Talal A.
出版 2016Text -
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Defects Along the Th17 Differentiation Pathway Underlie Genetically Distinct Forms of the Hyper IgE Syndrome 由 Khatib, Shadi Al, Keles, Sevgi, Garcia-Lloret, Maria, Karakoc-Aydiner, Elif, Reisli, Ismail, Artac, Hasibe, Camcioglu, Yildiz, Cokugras, Haluk, Somer, Ayper, Kutukculer, Necil, Yilmaz, Mustafa, Ikinciogullari, Aydan, Yegin, Olcay, Yüksek, Mutlu, Genel, Ferah, Kucukosmanoglu, Ercan, Baki, Ali, Bahceciler, Nerin N, Rambhatla, Anupama, Nickerson, Derek W., McGhee, Sean, Barlan, Isil B, Chatila, Talal
出版 2009Text -
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Patients with CD3G mutations reveal a role for human CD3γ in T(reg) diversity and suppressive function 由 Rowe, Jared H., Delmonte, Ottavia M., Keles, Sevgi, Stadinski, Brian D., Dobbs, Adam K., Henderson, Lauren A., Yamazaki, Yasuhiro, Allende, Luis M., Bonilla, Francisco A., Gonzalez-Granado, Luis I., Celikbilek Celik, Seyma, Guner, Sukru N., Kapakli, Hasan, Yee, Christina, Pai, Sung-Yun, Huseby, Eric S., Reisli, Ismail, Regueiro, Jose R., Notarangelo, Luigi D.
出版 2018Text -
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DOCK8 functions as an adaptor that links Toll-like receptor–MyD88 signaling to B cell activation 由 Jabara, Haifa H., McDonald, Douglas R., Janssen, Erin, Massaad, Michel J., Ramesh, Narayanaswamy, Borzutzky, Arturo, Rauter, Ingrid, Benson, Halli, Schneider, Lynda, Baxi, Sachin, Recher, Mike, Notarangelo, Luigi, Wakim, Rima, Dbaibo, Ghassan, Dasouki, Majed, Al-Herz, Waleed, Barlan, Isil, Baris, Safa, Kutukculer, Necil, Ochs, Hans, Plebani, Alessandro, Kanariou, Maria, Lefranc, Gerard, Reisli, Ismail, Fitzgerald, Kate, Golenbock, Douglas, Manis, John, Keles, Sevgi, Ceja, Reuben, Chatila, Talal, Geha, Raif S.
出版 2012Text -
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects 由 Weemaes, Corry MR, van Tol, Maarten JD, Wang, Jun, van Ostaijen-ten Dam, Monique M, van Eggermond, Marja CJA, Thijssen, Peter E, Aytekin, Caner, Brunetti-Pierri, Nicola, van der Burg, Mirjam, Graham Davies, E, Ferster, Alina, Furthner, Dieter, Gimelli, Giorgio, Gennery, Andy, Kloeckener-Gruissem, Barbara, Meyn, Stephan, Powell, Cynthia, Reisli, Ismail, Schuetz, Catharina, Schulz, Ansgar, Shugar, Andrea, van den Elsen, Peter J, van der Maarel, Silvère M
出版 2013Text -
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ILC3 Deficiency and Generalized ILC Abnormalities in DOCK8 Deficient Patients 由 Eken, Ahmet, Cansever, Murat, Okus, Fatma Zehra, Erdem, Serife, Nain, Ercan, Azizoglu, Zehra Busra, Haliloglu, Yesim, Karakukcu, Musa, Ozcan, Alper, Devecioglu, Omer, Aksu, Guzide, Ayyildiz, Zeynep Arikan, Topal, Erdem, Aydiner, Elif Karakoc, Kiykim, Ayca, Metin, Ayse, Cipe, Funda, Kaya, Aysenur, Artac, Hasibe, Reisli, Ismail, Guner, Sukru N., Uygun, Vedat, Karasu, Gulsun, Altuntas, Hamiyet Dönmez, Canatan, Halit, Oukka, Mohamed, Ozen, Ahmet, Chatila, Talal A., Keles, Sevgi, Baris, Safa, Unal, Ekrem, Patiroglu, Turkan
出版 2019Text -
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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome 由 Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
出版 2015Text