Works by Ozen, Seza

Results: 308
    1
    2
    3
    4
    5
    6

    ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1469, doi. 10.1002/humu.24056
    By:
    • Elsea, Sarah H.;
    • Solyom, Alexander;
    • Martin, Kirt;
    • Harmatz, Paul;
    • Mitchell, John;
    • Lampe, Christina;
    • Grant, Christina;
    • Selim, Laila;
    • Mungan, Neslihan Oneli;
    • Guelbert, Norberto;
    • Magnusson, Bo;
    • Sundberg, Erik;
    • Puri, Ratna;
    • Kapoor, Seema;
    • Arslan, Nur;
    • DiRocco, Maja;
    • Zaki, Maha;
    • Ozen, Seza;
    • Mahmoud, Iman G.;
    • Ehlert, Karoline
    Publication type:
    Article
    7

    MEFV mutations in Behçet's disease.

    Published in:
    Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A
    By:
    • Touitou, Isabelle;
    • Magne, Xavier;
    • Molinari, Nicolas;
    • Navarro, André;
    • Quellec, Alain Le;
    • Picco, Paolo;
    • Seri, Marco;
    • Ozen, Seza;
    • Bakkaloglu, Aysin;
    • Karaduman, Aysen;
    • Garnier, Jean Marc;
    • Demaille, Jacques;
    • Koné-Paut, Isabelle
    Publication type:
    Article
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24

    Report of 2 pediatric cases with atypical Cogan's syndrome and a systematic review.

    Published in:
    International Journal of Rheumatic Diseases, 2023, v. 26, n. 3, p. 544, doi. 10.1111/1756-185X.14531
    By:
    • Kasap Cuceoglu, Muserref;
    • Basaran, Ozge;
    • Batu, Ezgi Deniz;
    • Kaya Akca, Ummusen;
    • Atalay, Erdal;
    • Sener, Seher;
    • Balik, Zeynep;
    • Bayindir, Yagmur;
    • Aliyev, Emil;
    • Gocmen, Rahsan;
    • Kadayifcilar, Sibel;
    • Akyol, Umut;
    • Bilginer, Yelda;
    • Ozen, Seza
    Publication type:
    Article
    25
    26
    27

    Comparing polyarteritis nodosa in children and adults: a single center study.

    Published in:
    International Journal of Rheumatic Diseases, 2017, v. 20, n. 8, p. 1016, doi. 10.1111/1756-185X.13120
    By:
    • Erden, Abdulsamet;
    • Batu, Ezgi D.;
    • Sönmez, Hafize E.;
    • Sarı, Alper;
    • Armagan, Berkan;
    • Arıcı, Zehra S.;
    • Bilgin, Emre;
    • Kalyoncu, Umut;
    • Karadağ, Ömer;
    • Bilginer, Yelda;
    • Ertenli, Ali Ihsan;
    • Özen, Seza
    Publication type:
    Article
    28
    29

    A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

    Published in:
    2017
    By:
    • Papa, Riccardo;
    • Doglio, Matteo;
    • Lachmann, Helen J.;
    • Ozen, Seza;
    • Frenkel, Joost;
    • Simon, Anna;
    • Neven, Bénédicte;
    • Kuemmerle-Deschner, Jasmin;
    • Ozgodan, Huri;
    • Caorsi, Roberta;
    • Federici, Silvia;
    • Finetti, Martina;
    • Trachana, Maria;
    • Brunner, Jurgen;
    • Bezrodnik, Liliana;
    • Pinedo Gago, Mari Carmen;
    • Maggio, Maria Cristina;
    • Tsitsami, Elena;
    • Suwairi, Wafaa Al;
    • Espada, Graciela
    Publication type:
    journal article
    30
    31

    Mutations in the gene encoding B1 subunit of H<sup>+</sup>-ATPase cause renal tubular acidosis with sensorineural deafness.

    Published in:
    Nature Genetics, 1999, v. 21, n. 1, p. 84, doi. 10.1038/5022
    By:
    • Karet, Fiona E.;
    • Finberg, Karin E.;
    • Nelson, Raoul D.;
    • Nayir, Ahmet;
    • Mocan, Hilal;
    • Sanjad, Sami A.;
    • Rodriguez-Soriano, Juan;
    • Santos, Fernando;
    • Cremers, Cor W.R.J.;
    • Pietro, Antonio Di;
    • Hoffbrand, Barry I.;
    • Winiarski, Jacek;
    • Bakkaloglu, Aysin;
    • Ozen, Seza;
    • Dusunsel, Ruhan;
    • Goodyer, Paul;
    • Hulton, Sally A.;
    • Wu, Doris K.;
    • Skvorak, Anne B.
    Publication type:
    Article
    32
    33
    34
    35
    36
    37
    38
    39

    Neuropsychiatric involvement in juvenile systemic lupus erythematosus.

    Published in:
    Turkish Journal of Pediatrics, 2008, v. 50, n. 2, p. 126
    By:
    • Demirkaya, Erkan;
    • Bilginer, Yelda;
    • Aktay-Ayaz, Nuray;
    • Yalnizoğlu, Dilek;
    • Karli-Oğuz, Kader;
    • Işikhan, Vedat;
    • Türker, Türker;
    • Topaloğlu, Rezan;
    • Beşbaş, Nesrin;
    • Bakkaloğlu, Ayşin;
    • Özen, Seza
    Publication type:
    Article
    40
    41
    42
    43
    44
    45

    Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A Multinational, Multicenter Study of 362 Patients.

    Published in:
    Arthritis & Rheumatology, 2014, v. 66, n. 11, p. 3160, doi. 10.1002/art.38802
    By:
    • Minoia, Francesca;
    • Davì, Sergio;
    • Horne, AnnaCarin;
    • Demirkaya, Erkan;
    • Bovis, Francesca;
    • Li, Caifeng;
    • Lehmberg, Kai;
    • Weitzman, Sheila;
    • Insalaco, Antonella;
    • Wouters, Carine;
    • Shenoi, Susan;
    • Espada, Graciela;
    • Ozen, Seza;
    • Anton, Jordi;
    • Khubchandani, Raju;
    • Russo, Ricardo;
    • Pal, Priyankar;
    • Kasapcopur, Ozgur;
    • Miettunen, Paivi;
    • Maritsi, Despoina
    Publication type:
    Article
    46
    47
    48
    49
    50