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SaveShare Save Share Save Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation
Biglari, Sajjad; Shahrooei, Mohammad; Vahidnezhad, Fatemeh; Youssefian, Leila; Ziaee, Vahid; Rezaei, Nima; Moghaddam, Atefeh Sohanforooshan; Sedighzadeh, Sahar; Moravej, Hossein; Safari Foroushani, Parisa; Keivanfar, Majid; Ilkhanipoor, Homa; Hozhabrpour, Amir; Seyedhosseini-Ghaheh, Hooria; Mohammadzadeh, Iraj; Naderi, Majid; Sheikhi Ghayur, Elham; Mansour Samaei, Nader; Dorgaleleh, Saeed; Esmaeilzadeh, Emran; Sherkat, Roya; Khorram Khorshid, Hamid Reza; Tabatabaiefar, Mohammad Amin; Hakonarson, Hakon; Vahidnezhad, Hassan Share Save High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder EffectSedghi, Maryam; Gharehdaghi, Elika Esmaeilzadeh; Ziaee, Vahid; Abbasi, Farzaneh; Meybodi, Hamid Reza Aghaei; Smailey, Elina; Mehdizadeh, Mehrzad; Raeeskarami, Seyyed Reza; Aslani, Nahid; Shiran, Sahar Naderi; Vafadar, Mehdi; Amoli, Mahsa M. Share Save Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working PartyBuso, Helena; Adam, Etai; Arkwright, Peter D.; Bhattad, Sagar; Hamidieh, Amir Ali; Behfar, Maryam; Belot, Alexandre; Benezech, Sarah; Chan, Alice Y.; Crow, Yanick J.; Dvorak, Christopher C.; Flinn, Aisling M.; Kapoor, Urvi; Lankester, Arjan; Kobayashi, Masao; Matsumura, Risa; Mottaghipisheh, Hadi; Okada, Satoshi; Ouachee, Marie; Parvaneh, Nima; Ramprakash, Stalin; Satwani, Prakash; Sharafian, Samin; Triaille, Clement; Wynn, Robert F.; Movahedi, Nasim; Ziaee, Vahid; Williams, Eleri; Slatter, Mary; Gennery, Andrew R. Share Save Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyOda, Hirotsugu; Manthiram, Kalpana; Chavan, Pallavi Pimpale; Rieser, Eva; Veli, Oenay; Kaya, Oeykue; Rauch, Charles; Nakabo, Shuichiro; Kuehn, Hye Sun; Swart, Mariel; Wang, Yanli; Celik, Nisa Ilgim; Molitor, Anne; Ziaee, Vahid; Movahedi, Nasim; Shahrooei, Mohammad; Parvaneh, Nima; Alipour-Olyei, Nasrin; Carapito, Raphael; Xu, Qin; Preite, Silvia; Beck, David B.; Chae, Jae Jin; Nehrebecky, Michele; Ombrello, Amanda K.; Hoffmann, Patrycja; Romeo, Tina; Deuitch, Natalie T.; Matthiasardottir, Brynja; Mullikin, James; Komarow, Hirsh; Stoddard, Jennifer; Niemela, Julie; Dobbs, Kerry; Sweeney, Colin L.; Anderton, Holly; Lawlor, Kate E.; Yoshitomi, Hiroyuki; Yang, Dan; Boehm, Manfred; Davis, Jeremy; Mudd, Pamela; Randazzo, Davide; Tsai, Wanxia Li; Gadina, Massimo; Kaplan, Mariana J.; Toguchida, Junya; Mayer, Christian T.; Rosenzweig, Sergio D.; Notarangelo, Luigi D.; Iwai, Kazuhiro; Silke, John; Schwartzberg, Pamela L.; Boisson, Bertrand; Casanova, Jean-Laurent; Bahram, Seiamak; Rao, Anand Prahalad; Peltzer, Nieves; Walczak, Henning; Lalaoui, Najoua; Aksentijevich, Ivona; Kastner, Daniel L. Share Save Share Save Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis A Family With a Novel Autosomal Recessive Mode of InheritanceVahidnezhad, Hassan; Youssefian, Leila; Saeidian, Amir Hossein; Ziaee, Vahid; Mahmoudi, Hamidreza; Parvaneh, Nima; Ashjaei, Bahar; Shahrokh, Soroush; Hesari, Kambiz Kamyab; Zangbar, Mohammadsadegh Soltani; Yousefi, Mehdi; Zeinali, Sirous; Uitto, Jouni Share Save Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector EngagementOhishi, Yuta; Ammann, Sandra; Ziaee, Vahid; Strege, Katharina; Gross, Miriam; Amos, Carla Vazquez; Shahrooei, Mohammad; Ashournia, Parisa; Razaghian, Anahita; Griffiths, Gillian M.; Ehl, Stephan; Fukuda, Mitsunori; Parvaneh, Nima Share Save NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammationCastro, Carla Noemi; Rosenzwajg, Michelle; Carapito, Raphael; Shahrooei, Mohammad; Konantz, Martina; Khan, Amjad; Miao, Zhichao; Gross, Miriam; Tranchant, Thibaud; Radosavljevic, Mirjana; Paul, Nicodeme; Stemmelen, Tristan; Pitoiset, Fabien; Hirschler, Aurelie; Nespola, Benoit; Molitor, Anne; Rolli, Veronique; Pichot, Angelique; Faletti, Laura Eva; Rinaldi, Bruno; Friant, Sylvie; Mednikov, Mark; Karauzum, Hatice; Aman, M. Javad; Carapito, Christine; Lengerke, Claudia; Ziaee, Vahid; Eyaid, Wafaa; Ehl, Stephan; Alroqi, Fayhan; Parvaneh, Nima; Bahram, Seiamak Share Save The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunitySalzer, Elisabeth; Zoghi, Samaneh; Kiss, Mate G.; Kage, Frieda; Rashkova, Christina; Stahnke, Stephanie; Haimel, Matthias; Platzer, Rene; Caldera, Michael; Ardy, Rico Chandra; Hoeger, Birgit; Block, Jana; Medgyesi, David; Sin, Celine; Shahkarami, Sepideh; Kain, Renate; Ziaee, Vahid; Hammerl, Peter; Bock, Christoph; Menche, Jorg; Dupre, Loic; Huppa, Johannes B.; Sixt, Michael; Lomakin, Alexis; Rottner, Klemens; Binder, Christoph J.; Stradal, Theresia E. B.; Rezaei, Nima; Boztug, Kaan Share Save Share Save Share Save Share Save Share Save Share Save Tumor necrosis factor-alpha single nucleotide polymorphisms in juvenile systemic lupus erythematosusTahghighi, Fatemeh; Ziaee, Vahid; Moradinejad, Mohammad Hassan; Rezaei, Arezou; Harsini, Sara; Soltani, Samaneh; Sadr, Maryam; Mahmoudi, Maryam; Aghighi, Yahya; Rezaei, Nima Share Save Share Save Share Save 
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