Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

by Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
Published 2012-01-01

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

by Manabu Nakayama, Hirotsugu Oda, Kenji Nakagawa, Takahiro Yasumi, Tomoki Kawai, Kazushi Izawa, Ryuta Nishikomori, Toshio Heike, Osamu Ohara
Published 2017-03-01

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

by Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Freiberger, Tomáš Milota, Tomáš Milota, Renata Formánková, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Maciej Siedlar, Tadej Avčin, Tadej Avčin, Gašper Markelj, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Hana Grombirikova, Maruša Debeljak, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Anna Šedivá, Mirjam van der Burg, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Published 2020-06-01