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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 3
Zeitschriftenartikel
Frommherz, Leonie; Komlosi, Katalin; Hewel, Charlotte; Kopp, Julia; Dewenter, Malin; Zimmer, Andreas; Bartsch, Oliver; Linke, Matthias; Technau-Hafsi, Kristin; Gerber, Susanne; Fischer, Judith und Has, Cristina
(2022):
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
In: Journal of the European Academy of Dermatology and Venereology, Bd. 37, Nr. 4: S. 817-822
Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; Vries, Esther de; Meer, Jos W. M. van der; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroeder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; Flier, Michiel van der; Martinez-Gallo, Monica; Ignacio Gonzalez-Granado, Luis; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Baris, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjanen, Jaana; Seppanen, Mikko R. J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus und Grimbacher, Bodo
(2020):
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
In: Journal of Allergy and Clinical Immunology, Bd. 146, Nr. 4: S. 901-911
Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M.; Wechtenbruch, Juliane; Suckfuell, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver und Steinberger, Daniela
(18. März 2013):
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
In: BMJ Open, Bd. 3, Nr. 3, e001917
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