Search Results - Reisli, Ismail
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Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities by IJspeert, Hanna, Warris, Adilia, Flier, Michiel, Reisli, Ismail, Keles, Sevgi, Chishimba, Sandra, Dongen, Jacques JM, Gent, Dik C, Burg, Mirjam
Published 2013Text -
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Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome by Lun, Melody P., Shannon, Morgan L., Keles, Sevgi, Reisli, Ismail, Luche, Nicole, Ryan, Douglas, Capuder, Kelly, Notarangelo, Luigi D., Lehtinen, Maria K.
Published 2019Text -
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An association between immune status and chest CT scores in COVID‐19 patients by Çölkesen, Fatih, Poyraz, Necdet, Arslan, Şevket, Yılmaz, Pınar Diydem, Kepenek Kurt, Esma, Korkmaz, Celalettin, Yıldız, Eray, Çölkesen, Fatma, Aytekin, Gökhan, Keleş, Sevgi, Reisli, İsmail
Published 2021Text -
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Molecular dissection of human b-cell tolerance - insights from primary immunodeficiencies by 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
Published 2014Text -
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Plasmacytoid Dendritic Cell Depletion in DOCK8 Deficiency: Rescue of Severe Herpetic Infections with Interferon Alpha-2b Therapy by 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.
Published 2014Text -
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Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1 by 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.
Published 2019Text -
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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency by 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
Published 2015Text -
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DOCK8 Regulates STAT3 Activation and Promotes Th17 Cell Differentiation by 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.
Published 2016Text -
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Defects Along the Th17 Differentiation Pathway Underlie Genetically Distinct Forms of the Hyper IgE Syndrome by 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
Published 2009Text -
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Patients with CD3G mutations reveal a role for human CD3γ in T(reg) diversity and suppressive function by 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.
Published 2018Text -
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DOCK8 functions as an adaptor that links Toll-like receptor–MyD88 signaling to B cell activation by 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.
Published 2012Text -
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects by 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
Published 2013Text -
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ILC3 Deficiency and Generalized ILC Abnormalities in DOCK8 Deficient Patients by 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
Published 2019Text -
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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome by 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
Published 2015Text