A novel mutation in the OTOF gene in a Chinese family with auditory neuropathy
Deng, Lin, Wen, Cheng, Yu, Yiding, Li, Yue, Liu, Hui, Fu, Xinxing, Cheng, Xiaohua, Huang, Lihui
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Single-cell metabolomics in rare disease: From technology to disease
Li, Lisha, Zhang, Yiqin, Zhou, Jing, Wang, Jing, Wang, Ling
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions
Machida, Osamu, Sakamoto, Haruko, Yamamoto, Keiko Shimojima, Hasegawa, Yuiko, Nii, Satoi, Okada, Hidenori, Nishikawa, Kazuki, Sumimoto, Shin-Ichi, Nishi, Eriko, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene
Sun, Yuxin, Song, Xiaomin, Pan, Hua, Li, Xiaoxuan, Sun, Lirong, Song, Liang, Ma, Fei, Hao, Junnan
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management
Utari, Agustini, Cayami, Ferdy Kurniawan, Rahardjo, Tithasiri Audi, Sabatini, Selvia Eva, Ulvyana, Vynda, Winarni, Tri Indah
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
The epidemiology and healthcare burden of rare diseases requiring hospitalisation among adult patients in Langkawi, Malaysia: Insights from a pilot study
Chow, Ngah Kuan, Ghani, Norazila Abdul, Zamri, Nursyahmina, Anuar, Mohammad Nurhuzairie
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Clinical features of extrahepatic portal vein obstruction: Myeloproliferative neoplasms eliminate hypersplenic hematologic changes in extrahepatic portal vein obstruction
Shimizu, Tetsuya, Yoshida, Hiroshi, Taniai, Nobuhiko, Yoshioka, Masato, Kawano, Yoichi, Matsushita, Akira, Ueda, Junji, Iwai, Takuma, Murokawa, Takahiro, Ono, Takashi, Hamaguchi, Akira
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Reprogramming the future: Capitalizing on in vitro embryo culture by advancing stem cell technologies in the fight against rare genetic disorders
Li, Lisha, Zhang, Taiwei, Hua, Zhaozhao, Wang, Jing, Sun, Hongmei, Chen, Qian, Zhou, Yiyuan, Wang, Ling
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A)
Busolin, Amelie, Vely, Frederic, Eymard-Duvernay, Gilles, Barlogis, Vincent, Fabre, Alexandre
Published in Intractable & Rare Diseases Research (2024)
Published in Intractable & Rare Diseases Research (2024)
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Journal Article
Expression of collagen-related piRNA is dysregulated in cultured dermal fibroblasts derived from patients with scleroderma
Tanaka, Minako, Inaba, Yutaka, Yariyama, Azusa, Nakatani, Yumi, Kunimoto, Kayo, Kaminaka, Chikako, Yamamoto, Yuki, Makino, Katsunari, Fukushima, Satoshi, Jinnin, Masatoshi
Published in Intractable & Rare Diseases Research (2023)
Published in Intractable & Rare Diseases Research (2023)
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