Etiqueta: IRDR
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene [ Author ] Jinyu Liu,Yi Wu,Shixuan Xu,Yirui Qin,Guoqiang Li,Yiyao Chen,Lulu Li,Fang Liu,Shuyuan…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Long-term outcomes of brain arteriovenous malformations after microsurgery or transarterial embolization [ Author ] Junyu Liu,Yuxin Guo,Binfeng Yuan,Fang Cao,Yuge Wang,Nibu Zhenmei,Yishu Yuan,Dun Yuan,Weixi Jiang,Yife…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review [ Author ] Christina L Minar Napitupulu,Jeslyn Tengkawan,Agustini Utari,Tri Indah Winarni,Nydia Rena Benita Sihombing [ Publication date ] 2026-09-30 [ DOI…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Traditional Chinese medicine research on rare diseases: Publication trends and future perspectives [ Author ] Li-ming Chen,Xin-yi Chen,Bo-wen Liu,Ying Mu,Qi Kang,Huan-gan Wu [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/10.5582/ird…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Japanese intractable and rare dermatologic diseases: From the official skin-centered nanbyo core to an illustrative mechanism-based framework [ Author ] Yue Han,Tian-Ge Qin,Peipei Song [ Publication date ] 2026-09-30 [ DOI ] https://doi.org/…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Long-term outcomes of brain arteriovenous malformations after microsurgery or transarterial embolization [ Author ] Junyu Liu,Yuxin Guo,Binfeng Yuan,Fang Cao,Yuge Wang,Nibu Zhenmei,Yishu Yuan,Dun Yuan,Weixi Jiang,Yife…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Cutaneous lymphomas reported following the use of dupilumab, nemolizumab, tralokinumab, or lebrikizumab: A case investigation based on JADER database and disproportionality analysis [ Author ] Hiroyuki Tanaka,Toshihiro Ishii [ Publication da…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis [ Author ] Tatsiana Babina,Bogumiła Alicja Górczewska,Elżbieta Jakubowska-Pietkiewicz [ Publication date ] 2026-09-30 [ DOI ] https://do…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Fulminant myocarditis and sudden death associated with thymoma-related autoimmunity [ Author ] Ying Liu,Xue Yin,Baitong Wang,Yuqing Zhao,Xianglin Chu,Liewen Pang,Chongbo Zhao,Jian Li,Yiming Wang,Sushan Luo [ Publication date ] 2026-09-30 [ D…
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The new article is now available. Intractable & Rare Diseases Research
[ Title ] Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease [ Author ] Guowei Li,Jing Luan,Zihan Li,Yali Yang,Chonghao Shao,Jing Wang,Zhenzhong Han,Quanlin Wang,Yuan Zhu,Che Yu,Yazhou Cui,Jinxi…