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The Journal of Allergy and Clinical Immunology|October 18, 2003
Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminaseYukiko Kasahara, Hideo Kaneko, Toshiyuki Fukao, et al.Journal of Pediatric Hematology/Oncology|December 27, 2018
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary BlastomaAkifumi Nozawa, Michio Ozeki, Riko Kawasaki, et al.Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 7, 2019
Autosomal dominant Hashimoto's thyroiditis with a mutation in TNFAIP3Tomohiro Hori, Hidenori Ohnishi, Tomonori Kadowaki, et al.Journal of Human Genetics|November 6, 2018
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiencyToshiyuki Fukao, Hideo Sasai, Yuka Aoyama, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|January 7, 2015
Inborn errors of ketone body utilizationTomohiro Hori, Seiji Yamaguchi, Haruo Shinkaku, et al.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|June 10, 2005
A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndromeMasashi Kondo, Toshiyuki Fukao, Takahide Teramoto, et al.Epilepsy & Behavior Case Reports|November 30, 2016
ACTH therapy for West syndrome with severe hemophilia AKazuo Kubota, Yoriko Kinomura, Takahiro Yamamoto, et al.International Journal of Molecular Medicine|January 22, 2008
Age-related changes in BAFF and APRIL profiles and upregulation of BAFF and APRIL expression in patients with primary antibody deficiencyRong Jin, Hideo Kaneko, Hiroko Suzuki, et al.Journal of Pediatric Hematology/Oncology|October 10, 2017
A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With EculizumabAkifumi Nozawa, Michio Ozeki, Tomohiro Hori, et al.Gene|April 27, 2018
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exonsMina Nakama, Hiroki Otsuka, Yasuhiko Ago, et al.Pageof 20