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Zeitschriftenartikel
Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andres; Buchta, Mary; Huebscher, Katrin; Gamez-Diaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Omur; Atkinson, T. Prescott; Kut, Fulya Bektas; Celmeli, Fatih; Rees, Helen; Kilic, Sara S.; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Ozgur, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; Bernuth, Horst von; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb und Grimbacher, Bodo
(2021):
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1804-1838
Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; Essen, Ton J. van; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; Dijk, Katinke van; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; Hoeckel, Ceciel van; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David und Baralle, Diana
(2018):
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
In: Journal of Medical Genetics, Bd. 55, Nr. 2: S. 104-113
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