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Good laboratory practice for PGT-M: Turkish Society of Reproductive Medicine guidelines Unsal, Evrim; Aktuna, Suleyman; Arda, Berna; Balaban, Basak; Baltaci, Volkan; Bayram, Asina; Bozdag, Gurkan; Candan, Zafer Nihat; Cetinkaya, Murat; Ceylaner, Serdar; Findikli, Necati; Celik, Hale Goksever; Halicigil, Cihan; Kahraman, Semra; Kayacaglayan, Metin; Keles, Ipek; Kurtoglu, Ayse; Mutlu, Aylin; Ozgon, Gulay; Sukur, Yavuz Emre; Tufekci, Mehmet Ali; Yakin, Kayhan; Yelke, Hakan; Yildiz, Sule; Ata, Baris 分享 收藏
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans (vol 44, 175, 2024) Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Gulsum; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 分享 收藏
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis 儿科重症监护中的先天性免疫错误: 患病率，特征和预后 Celmeli, Fatih; Oz, Ayse; Kihtir, Hasan Serdar; Ongun, Ebru Atike; Tekmenuray-Unal, Aysel; Ceylaner, Serdar; Aykut, Ayca; Aydin, Sultan; Baris, Safa 分享 收藏
Newborn screening for SCID: the very first prospective pilot study from Türkiye SCID的新生儿筛查: 来自t ü rkiye的第一个前瞻性试点研究 Haskologlu, Sule; Kocak, Senem; Tufan, Lale Satiroglu; Aksoy, Fethiye Eken; Bastug, Dilan; Oner, Deniz Aslar; Islamoglu, Candan; Baskin, Kubra; Esenboga, Saliha; Acican, Deniz; Ceylaner, Serdar; Guner, Sukru Nail; Keles, Sevgi; Cagdas, Deniz; Reisli, Ismail; Tezel, Basak; Dogu, Figen; Tezcan, Ilhan; Ikinciogullari, Aydan 分享 收藏
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Guelsuem; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet 分享 收藏
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature (vol 44, 1, 2024) Lanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet; Hauck, Fabian 分享 收藏
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature Lanz, Anna-Lisa; Erdem, Serife; Ozcan, Alper; Ceylaner, Gulay; Cansever, Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet; Hauck, Fabian 分享 收藏
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant Akgun-Dogan, Ozlem; Diaz-Gonzalez, Francisca; de Lima Jorge, Alexander Augusto; Onenli-Mungan, Neslihan; Menezes Andrade, Nathalia Liberatoscioli; Cellin, Laurana de Polli; Ceylaner, Serdar; Rosa Modkovski, Maria Barcellos; Alanay, Yasemin; Heath, Karen E. 分享 收藏
Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report Yekeduz, Merve Koc; Yilmaz, Rezzak; Kayis, Gorkem; Dogulu, Neslihan; Oncul, Ummuhan; Abali, Talha; Temizyurek, Akar Diyar; Celik, Gokalp; Coklu, Hilal; Gemci, Emine; Yalcin, Ahmet; Ceylaner, Serdar; Akbostanci, M. Cenk; Eminoglu, Fatma Tuba 分享 收藏
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation 两名具有新突变的戈谢病2型患者中胎儿水肿的罕见原因 Kilavuz, Sebile; Basaranoglu, Murat; Epcacan, Serdar; Bako, Derya; Ozer, Arife; Donmez, Yasemin Nuran; Ceylan, Emine Ipek; Tukun, Ajlan; Ceylaner, Serdar; Geylani, Hadi; Mungan, Halise Neslihan Onenli 分享 收藏
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Aydin, Halil Ibrahim; Ceylaner, Serdar; Drewes, Sarah; Vockley, Jerry; Taylor, Rhonda L.; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R. R.; Davis, Mark R.; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; O'Gorman, Cullen; McCombe, Pamela; Laing, Nigel G.; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina 分享 收藏
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏
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