Resultados de búsqueda - Fang, Mingyan

Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated With Colorectal Cancer por Liu, Chuanfa, Li, Zhiming, Ding, Jiahong, Zhen, Hefu, Fang, Mingyan, Nie, Chao

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CLEC4s as Potential Therapeutic Targets in Hepatocellular Carcinoma Microenvironment por Zhang, Yinjiang, Wei, Hongyun, Fan, Lu, Fang, Mingyan, He, Xu, Lu, Binan, Pang, Zongran

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Identification of Potential Biomarkers for Pan-Cancer Diagnosis and Prognosis Through the Integration of Large-Scale Transcriptomic Data por Zhu, Lin, Miao, Yu, Xi, Feng, Jiang, Pingping, Xiao, Liang, Jin, Xin, Fang, Mingyan

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Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity por Liu, Panhong, Fang, Mingyan, Luo, Yuxue, Zheng, Fang, Jin, Yan, Cheng, Fanjun, Zhu, Huanhuan, Jin, Xin

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A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism por Pillar, Nir, Pleniceanu, Oren, Fang, Mingyan, Ziv, Limor, Lahav, Einat, Botchan, Shay, Cheng, Le, Dekel, Benjamin, Shomron, Noam

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Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy por Rossi, Rachele, Fang, Mingyan, Zhu, Lin, Jiang, Chongyi, Yu, Cong, Flesia, Cristina, Nie, Chao, Li, Wenyan, Ferlini, Alessandra

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Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation por Körholz, Julia, Lucas, Nadja, Boiti, Franziska, Althaus, Karina, Tiebel, Oliver, Fang, Mingyan, Berner, Reinhard, Lee-Kirsch, Min Ae, Knöfler, Ralf

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A novel homozygous mutation in SUCLA2 gene identified by exome sequencing por Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele

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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa por Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Tümer, Zeynep, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen, Grønskov, Karen

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Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K(+) Channel Encoded by KCNJ6 por Masotti, Andrea, Uva, Paolo, Davis-Keppen, Laura, Basel-Vanagaite, Lina, Cohen, Lior, Pisaneschi, Elisa, Celluzzi, Antonella, Bencivenga, Paola, Fang, Mingyan, Tian, Mingyu, Xu, Xun, Cappa, Marco, Dallapiccola, Bruno

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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy por Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy por Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

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Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination por Rothschild, Gerson, Zhang, Wanwei, Lim, Junghyun, Giri, Pankaj Kumar, Laffleur, Brice, Chen, Yiyun, Fang, Mingyan, Chen, Yuling, Nair, Lekha, Liu, Zhi-Ping, Deng, Haiteng, Hammarström, Lennart, Wang, Jiguang, Basu, Uttiya

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Developing an Unbiased Multiplex PCR System to Enrich the TRB Repertoire Toward Accurate Detection in Leukemia por Wu, Jinghua, Wang, Xie, Lin, Liya, Li, Xuemei, Liu, Sixi, Zhang, Wei, Luo, Lihua, Wan, Ziyun, Fang, Mingyan, Zhao, Yi, Wang, Xiaodong, Mai, Huirong, Yuan, Xiuli, Wen, Feiqiu, Li, Changgang, Liu, Xiao

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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases por Falzarano, Maria Sofia, Rossi, Rachele, Grilli, Andrea, Fang, Mingyan, Osman, Hana, Sabatelli, Patrizia, Antoniel, Manuela, Lu, Zhiyuan, Li, Wenyan, Selvatici, Rita, Al-Khalili, Cristina, Gualandi, Francesca, Bicciato, Silvio, Torelli, Silvia, Ferlini, Alessandra

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Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant por Melchionda, Laura, Fang, Mingyan, Wang, Hairong, Fugnanesi, Valeria, Morbin, Michela, Liu, Xuanzhu, Li, Wenyan, Ceccherini, Isabella, Farina, Laura, Savoiardo, Mario, D’Adamo, Pio, Zhang, Jianguo, Costa, Alfredo, Ravaglia, Sabrina, Ghezzi, Daniele, Zeviani, Massimo

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium por Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshøj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Møller, Lisbeth Birk, Grønskov, Karen

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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects por Fang, Mingyan, Su, Zheng, Abolhassani, Hassan, Zhang, Wei, Jiang, Chongyi, Cheng, Bochen, Luo, Lihua, Wu, Jinghua, Wang, Shiyu, Lin, Liya, Wang, Xie, Wang, Longlong, Aghamohammadi, Asghar, Li, Tao, Zhang, Xiuqing, Hammarström, Lennart, Liu, Xiao

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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy por Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia

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Integrating plasma cell‐free DNA with clinical laboratory results enhances the prediction of critically ill patients with COVID‐19 at hospital admission por Bai, Yong, Zheng, Fang, Zhang, Tongda, Luo, Qiuhong, Luo, Yuxue, Zhou, Ruilong, Jin, Yan, Shan, Ying, Cheng, Jiehui, Yang, Zhimin, Li, Lingguo, Zhang, Haiqiang, Zhang, Yan, Yin, Jianhua, Fang, Mingyan, Chen, Dongsheng, Cheng, Fanjun, Jin, Xin

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