花房 宏昭, 森貞 直哉, 長坂 美和子, 叶 明娟, 野口 裕子, 長野 智那, 野津 寛大, 粟野 宏之. MSL3領域のヌリソミーで生じたBasilicata-Akhtar症候群の日本人男児例(Basilicata-Akhtar syndrome derived from a nullisomy of the MSL3 region in a Japanese boy). 脳と発達. 2023. 55. 4. 279-282
花房 宏昭, 森貞 直哉, 長坂 美和子, 叶 明娟, 野口 裕子, 長野 智那, 野津 寛大, 粟野 宏之. MSL3領域のヌリソミーで生じたBasilicata-Akhtar症候群の日本人男児例(Basilicata-Akhtar syndrome derived from a nullisomy of the MSL3 region in a Japanese boy). 脳と発達. 2023. 55. 4. 279-282
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, et al. Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease. Kidney International Reports. 2023
Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, et al. All reported non-canonical splice site variants in GLA cause aberrant splicing. Clinical and experimental nephrology. 2023
Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, et al. Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866. Kidney international reports. 2023. 8. 5. 1127-1129
The utility of urinary CD80 as a diagnostic maker in patients with renal diseases
(51th Annual Scientific Meeting of the European Society for Paediatric Nephrology 2018)
Splicing assay with hybrid minigene: assessing pathogenicities in COL4A5 intronic mutations
(52st Annual Meeting of the American Society of Nephrology 2018)
Factors regulating the severity in male X-linked Alport syndrome: study of 367 cases
(52st Annual Meeting of the American Society of Nephrology 2018)
Comprehensive genetic analysis of nephronophthisis-related ciliopathies (NPHP-RC) using next generation sequencing
(51th Annual Scientific Meeting of the European Society for Paediatric Nephrology 2018)
