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Anzahl der Publikationen: 9
Zeitschriftenartikel
Haimel, Matthias; Pazmandi, Julia; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi Koestel; Zoghi, Samaneh; Daele, Paul van; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A. A.; Elfeky, Reem; Truck, Johannes; Riviere, Jacques G.; Burg, Mirjam van der; Gattorno, Marco; Seidel, Markus G.; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C.; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; Vries, Esther de; Robinson, Peter N.; Gijn, Marielle van und Boztug, Kaan
(2022):
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
In: Journal of Allergy and Clinical Immunology, Bd. 149, Nr. 1: S. 369-378
Momtazmanesh, Sara; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Molatefi, Rasol; Mohammadzadeh, Iraj; Ghaffari, Javad; Mahmoudi, Hamidreza; Dmytrus, Jasmin; Segarra-Roca, Anna; Somekh, Ido; Witzel, Maximilian; Hauck, Fabian; Boztug, Kaan; Klein, Christoph und Rezaei, Nima
(2022):
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 1: S. 159-168
Danandeh, Khashayar; Jabbari, Parnian; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Heredia, Raul Jimenez; Krolo, Ana; Shamsian, Bibi Shahin; Boztug, Kaan und Rezaei, Nima
(2022):
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.
In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 10: S. 1040-1046
Shafeghat, Melika; Esmaeilzadeh, Hossein; Sadeghalvad, Mona; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Heredia, Raul Jimenez; Krolo, Ana; Boztug, Kaan und Rezaei, Nima
(2021):
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
In: Allergologia et Immunopathologia, Bd. 49, Nr. 4: S. 91-97
Shaka, Zoha; Mojtabavi, Helia; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Raul, Jimenez Heredia; Sedighi, Iraj; Boztug, Kaan und Rezaei, Nima
(2021):
Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.
In: Allergologia et Immunopathologia, Bd. 49, Nr. 2: S. 80-83
Rahmani, Farzaneh; Rayzan, Elham; Rahmani, Mohammad Reza; Shahkarami, Sepideh; Zoghi, Samaneh; Rezaei, Arezoo; Aryan, Zahra; Najaf, Mehri; Rohlfs, Meino; Jeske, Tim; Aflatoonian, Majid; Chavoshzadeh, Zahra; Farahnnand, Fatemeh; Motamed, Farzaneh; Rohani, Pejman; Alinnadadi, Hossein; Mandaviani, Alireza; Mansouri, Mahboubeh; Tavakol, Marzieh; Vanderberg, Mirjam; Kotlarz, Daniel; Klein, Christoph und Rezaei, Nima
(2020):
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
In: Immunological Investigations, Bd. 50, Nr. 4: S. 445-459
Ghosh, Sujal; Bal, Sevgi Koestel; Edwards, Emily S. J.; Pillay, Bethany; Heredia, Raul Jimenez; Cipe, Funda Erol; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krueger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; Montfrans, Joris van; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Duckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C.; Pan-Hammarstroem, Qiang; Hammarstroem, Lennart; Lenardo, Michael J.; Ma, Cindy S.; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G.; Lankester, Arjan C. und Boztug, Kaan
(2020):
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
In: Blood, Bd. 136, Nr. 23: S. 2638-2655
Aghamohammadi, Asghar; Abolhassani, Hassan; Puchalka, Jacek; Greif-Kohistani, Naschla; Zoghi, Samaneh; Klein, Christoph und Rezaei, Nima
(2017):
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.
In: Journal of Clinical Immunology, Bd. 37, Nr. 3: S. 282-286
Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Montfrans, Joris van; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D.; Rosenzweig, Sergio; Grimbacher, Bodo; Veerdonk, Frank L. van de; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne; Cypowyj, Sophie; Thumerelle, Caroline; Toulon, Antoine; Bustamante, Jacinta; Tahuil, Natalia; Salhi, Aicha; Boiu, Sorina; Chopra, Charu; Di Giovanni, Daniela; Bezrodnik, Liliana; Boutros, Jeannette; Thomas, Caroline; Lacuesta, Gina; Jannier, Sarah; Korganow, Anne-Sophie; Paillard, Catherine; Boutboul, David; Bue, Melanie; Marie-Cardine, Aude; Bayart, Sophie; Migaud, Melanie; Weiss, Laurence; Karmochkine, Marina; Garcia-Martinez, Juan-Miguel; Stephan, Jean-Louis; Bensaid, Philippe; Jaennoel, Guy-Patrick; Witte, Torsten; Baumann, Ulrich; Harrer, Thomas; Navarrete, Carmen; Benjamin, Antony Terance; Firinu, Davide; Pignata, Claudio; Picco, Paolo; Mendoza, David; Reyes, Saul Oswaldo Lugo; Lozano, Carlos Torres; Ortega-Cisneros, Margarita; Cortina, Mariana; Mesdaghi, Mehrnaz; Nabavi, Mohammad; Espanol, Teresa; Martinez-Saavedra, Maia Teresa; Rezaei, Nima; Zoghi, Samaneh; Pac, Malgorzata; Barlogis, Vincent; Revon-Riviere, Gabriel; Haimi-Cohen, Yishai; Spiegel, Ronen; Miron, Dan; Bouchaib, Jabir; Blancas-Galicia, Lizbeth; Toth, Beata; Drexel, Barbara; Rohrlich, Pierre Simon; Lesens, Olivier; Hoernes, Miriam; Drewe, Elizabeth; Abinum, Mario; Sawalle-Belohradsky, Julie; Kindle, Gerhard; Depner, Mark; Milani, Lili; Nikopensius, Tiit; Remm, Maido; Talas, Ulvi Gerst; Tucker, Mark; Willis, Mary; Leonard, Stephanie; Meuwissen, Hilaire; Ferdman, Ronald M.; Wallace, Mark; Desai, Mukesh M.; Taur, Prasad; Badolato, Raffaele; Soltesz, Beata; Schnopp, Christina; Jansson, Annette F.; Ayvaz, Deniz; Shabashova, Nadejda; Chernyshova, Liudmyla; Bondarenko, Anastasia; Moshous, Despina; Neven, Benedicte; Boubidi, Chahinez; Ailal, Fatima; Giardino, Giuliana; Del Giacco, Stefano; Bougnoux, Marie-Elisabeth; Imai, Kohsuke; Okawa, Teppei; Mizoguchi, Yoko; Ozaki, Yusuke; Takeuchi, Masato; Hayakawa, Akira; Logering, Birgit; Reich, Kristian; Buhl, Timo; Eyerich, Kilian; Schaller, Martin; Arkwright, Peter D.; Gennery, Andrew R.; Cant, Andrew J.; Warris, Adilia; Henriet, Stefanie; Mekki, Najla; Barbouche, Ridha; Ben Mustapha, Imen; Bodemer, Christine; Polak, Michel; Grimprel, Emmanuel; Burgel, Pierre-Regis; Fischer, Alain; Hermine, Olivier; Debre, Marianne; Kocacyk, Dilara; Dhalla, Fatima; Patel, Smita Y.; Moens, Leen; Haerynck, Filomeen; Dullaers, Melissa; Hoste, Levi; Sanal, Ozden; Kilic, Sara Sebnem; Roesler, Joachim; Lanternier, Fanny; Lortholary, Olivier; Fieschi, Claire; Church, Joseph A.; Roifman, Chaim; Yuenyongviwat, Araya; Peterson, Part; Boisson-Dupuis, Stephanie; Abel, Laurent; Marciano, Beatriz E. und Netea, Mihai G.
(2016):
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
In: Blood, Bd. 127, Nr. 25: S. 3154-3164