Clin Case Rep

期刊全称Clin Case Rep
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期刊相关文献 (8)

The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10-year follow-up observation study and literature review

线粒体m.3243A>G突变母系遗传性糖尿病和耳聋（MIDD）的临床和遗传特征：一项为期10年的随访观察研究及文献综述

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.8458.
Shasha Zheng ,Juanjuan Wang ,Minxian Sun ,Pei Wang ,Wei Shi ,Zhongzhi Zhang ,Zhongjing Wang ,Hongmei Zhang
发表日期：2024
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NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review

NR1H4基因突变与婴儿期快速进展性肝内胆汁淤积症：病例报告及文献综述

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.8531.
Chiao-Yu Yang ,Hung-Wen Tsai ,Yen-Yin Chou ,Yao-Jong Yang
发表日期：2024
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Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review

帕克斯-韦伯综合征患者中发现的新型合子后RASA1突变：病例报告及文献综述

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.9543.
Robin A Pilz ,Dariush Skowronek ,Tamara Ehresmann ,Ute Felbor ,Matthias Rath
发表日期：2024
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Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report

胎儿先天性异常中20p13间质微缺失（包括PRNP及其邻近基因）——首例报告

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.4082.
Pelin Onur ,Mary Shaver ,Mohammed Anwaruddin Iqbal
发表日期：2021
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Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

一名患有 46,XX,t(X;11)(p22;p15)dn 染色体异常的女孩被诊断为 Coffin-Lowry 综合征：通过全基因组测序鉴定出 RPS6KA3 基因的破坏

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.2826.
Kaori Yamoto ,Hirotomo Saitsu ,Yasuko Fujisawa ,Fumiko Kato ,Keiko Matsubara ,Maki Fukami ,Masayo Kagami ,Tsutomu Ogata
发表日期：2020
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Assessment by miRNA microarray of an autologous cancer antigen-pulsed adoptive immune ensemble cell therapy (AC-ACT) approach; demonstrated induction of anti-oncogenic and anti-PD-L1 miRNAs

利用 miRNA 微阵列评估自体癌抗原脉冲过继免疫细胞疗法 (AC-ACT) 方法；证实可诱导抗癌和抗 PD-L1 miRNA 的表达

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.2343.
Masanobu Chinami ,Kaoru Iwabuchi ,Yoshiteru Muto ,Yasuhiko Uchida ,Ryu Arita ,Rana A Shuraim ,Chaker N Adra
发表日期：2019
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Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

一名患有临床自闭症谱系障碍的成年患者被诊断出患有坦普尔综合征

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.1895.
Takuro Kimura ,Masayo Kagami ,Keiko Matsubara ,Shuichi Yatsuga ,Rio Mukasa ,Chiho Yatsuga ,Takako Matsumoto ,Yasutoshi Koga
发表日期：2018
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An association with hypopituitarism and 9q subtelomere deletion syndrome

与垂体功能减退症和9q亚端粒缺失综合征相关

期刊:Clin Case Rep
影响因子:0.600
doi:10.1002/ccr3.1591.
Shinji Higuchi ,Masaki Takagi ,Ryojun Takeda ,Hiroshi Yoshihashi ,Satoshi Narumi ,Tomonobu Hasegawa
发表日期：2018
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