Rezultaty - Banerjee, Santasree

Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1 od Dai, Yi, Liang, Shengran, Huang, Yan, Chen, Lin, Banerjee, Santasree

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Next generation sequencing identified novel heterozygous nonsense mutation in CNGB1 gene associated with retinitis pigmentosa in a Chinese patient od Banerjee, Santasree, Yao, Junping, Zhang, Xinxin, Niu, Jianjun, Chen, Zhongshan

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Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia od Zheng, Yongjiang, Xu, Jiehua, Liang, Shengran, Lin, Dongjun, Banerjee, Santasree

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In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses od Banerjee, Santasree, Wu, Qian, Ying, Yuyi, Li, Yanni, Shirota, Matsuyuki, Neculai, Dante, Li, Chen

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Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia od Banerjee, Santasree, Lei, Dongzhu, Liang, Shengran, Yang, Li, Liu, Saijun, Wei, Zhu, Tang, Jian Ping

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A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis od Wang, Dan, Liang, Shengyun, Zhang, Zhao, Zhao, Guoru, Hu, Yuan, Liang, Shengran, Zhang, Xipeng, Banerjee, Santasree

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An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis od Dai, Yi, Ma, Yaling, Li, Shengde, Banerjee, Santasree, Liang, Shengran, Liu, Qing, Yang, Yinchang, Peng, Bin, Cui, Liying, Jin, Liri

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A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis od Zhang, Zhao, Liang, Shengyun, Wang, Dan, Liang, Shengran, Li, Yuwei, Wang, Bingjie, jiang, Tao, Zhao, Guoru, Zhang, Xipeng, Banerjee, Santasree

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A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis od Zhang, Zhao, Liang, Shengran, Huang, Hui, Wang, Dan, Zhang, Xipeng, Wu, Jing, Chen, Huishuang, Wang, Yanyan, Rong, Tingting, Zhou, Yulin, Banerjee, Santasree

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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy od Dai, Yi, Liang, Shengran, Dong, Xue, Zhao, Yanhuan, Ren, Haitao, Guan, Yuzhou, Yin, Haifang, Li, Chen, Chen, Lin, Cui, Liying, Banerjee, Santasree

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Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastr... od Yang, Lin, Banerjee, Santasree, Cao, Jie, Bai, Xiaohong, Peng, Zhijun, Chen, Haixia, Huang, Hui, Han, Peng, Feng, Shunyu, Yi, Na, Song, Xueru, Wu, Jing

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Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in C... od Yang, Lin, Banerjee, Santasree, Cao, Jie, Bai, Xiaohong, Peng, Zhijun, Chen, Haixia, Huang, Hui, Han, Peng, Feng, Shunyu, Yi, Na, Song, Xueru, Wu, Jing

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A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level od Zhang, Yanni, Chen, Huishuang, Peng, Zhiyu, Banerjee, Santasree, Li, Wei, Zhao, Zhaolong, Sun, Jianbin, Lv, Jian, Huang, Hui, Bai, Ru, Lin, Keke, Li, Zhongxin

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A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome od Wu, Bin, Ji, Wuyang, Liang, Shengran, Ling, Chao, You, Yan, Xu, Lai, Zhong, Min-Er, Xiao, Yi, Qiu, Hui-Zhong, Lu, Jun-Yang, Banerjee, Santasree

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Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report od Wang, Yanyan, Jiang, Da, Zhao, Qiang, Huang, Hui, Zhang, Xue, Cui, Yanzhi, Liu, Jiayin, Wu, Jing, Lin, Keke, Chen, Weixi, Xiang, Jiale, Jin, Hui, Peng, Zhiyu, Banerjee, Santasree

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KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses od Ying, Yuyi, Lu, Lu, Banerjee, Santasree, Xu, Lizhen, Zhao, Qiang, Wu, Hao, Li, Ruiqi, Xu, Xiao, Yu, Hua, Neculai, Dante, Xi, Yongmei, Yang, Fan, Qin, Jiale, Li, Chen

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Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly... od Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua

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Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chin... od An, Jinxia, Yang, Jie, Wang, Yan, Wang, Yanxia, Xu, Baicheng, Xie, Guangmei, Chai, Sanming, Liu, Xiaoling, Xu, Sijuan, Wen, Xiaoxiao, He, Qing, Liu, Huijun, Li, Chen, Dey, Subrata Kumar, Ni, Yali, Banerjee, Santasree

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Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan–McDermid syndrome od Lei, Dongzhu, Li, Shaoyuan, Banerjee, Santasree, Zhang, Haoqing, Li, Caiyun, Hou, Shuai, Chen, Danjing, Yan, Haiying, Li, Hanmei, peng, Huan Huan, Liu, Saijun, Zhang, Xinxin, Peng, Zhiyu, Wang, Jian, Yang, Huanming, Huang, Hui, Wu, Jing

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Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients od Huang, Hui, Wang, Ying, Chen, Huishuang, Chen, Yanhua, Wu, Jing, Chiang, Pei-Wen, Fan, Ning, Su, Yan, Deng, Jianlian, Chen, Dongna, Li, Yang, Zhang, Xinxin, Zhang, Mengxin, Liang, Shengran, Banerjee, Santasree, Qi, Ming, Liu, Xuyang

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