Intractable & Rare Diseases Research

Intractable & Rare Diseases Research

Published by International Research and Cooperation Association for Bio & Socio-Sciences Advancement

906 registered articles
(updated on April 23, 2024)

Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644

JOURNAL PEER REVIEWED FREE ACCESS ADVANCE PUBLICATION
Scopus Pubmed

2024 Volume 13 Issue 1

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene Yuxin Sun, Xiaomin Song, Hua Pan, Xiaoxuan Li, Lirong Sun, Liang Song, Fei Ma, Junnan Hao
The use of artificial intelligence in the treatment of rare diseases: A scoping review Da He, Ru Wang, Zhilin Xu, Jiangna Wang, Peipei Song, Haiyin Wang, Jinying Su
Global frailty screening tools: Review and application of frailty screening tools from 2001 to 2023 Yi Deng, Naomi Sato
Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa, Shin-Ichi Sumimoto, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto

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Most viewed articles (March 2024)

1

Early electronic screen exposure and autistic-like symptoms

Released on J-STAGE: March 15, 2018 | Volume 7 Issue 1 Pages 69-71

Donna Hermawati, Farid Agung Rahmadi, Tanjung Ayu Sumekar, Tri Indah Winarni
1

VEXAS syndrome: Current clinical, diagnostic and treatment approaches

Released on J-STAGE: September 05, 2023 | Volume 12 Issue 3 Pages 170-179

Senol Kobak
3

Trofinetide in Rett syndrome: A brief review of safety and efficacy

Released on J-STAGE: December 02, 2023 | Volume 12 Issue 4 Pages 262-266

Alok Singh, Mahesh Kumar Balasundaram, Dhyuti Gupta
4

Emotional journey of patients with specified intractable diseases in Japan

Released on J-STAGE: January 13, 2024 | Article ID 2023.01115

Hiroyuki Tanaka, Mikiko Shimaoka
5

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment

Released on J-STAGE: December 17, 2018 | Volume 7 Issue 4 Pages 223-228

Xiaoxiao Cui, Yazhou Cui, Liang Shi, Jing Luan, Xiaoyan Zhou, Jinxiang Han

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