Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Disease and HYDIN[original query] |
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| An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate. Neurogenetics 2015 Jan 16 (1): 55-64. Quadri Marialuisa, Yang Xu, Cossu Giovanni, Olgiati Simone, Saddi Valeria M, Breedveld Guido J, Ouyang Limei, Hu Jingchu, Xu Na, Graafland Josja, Ricchi Valeria, Murgia Daniela, Guedes Leonor Correia, Mariani Claudio, Marti Maria J, Tarantino Patrizia, Asselta Rosanna, Valldeoriola Francesc, Gagliardi Monica, Pezzoli Gianni, Ezquerra Mario, Quattrone Aldo, Ferreira Joaquim, Annesi Grazia, Goldwurm Stefano, Tolosa Eduardo, Oostra Ben A, Melis Maurizio, Wang Jun, Bonifati Vincen |
| Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES). Medical science monitor : international medical journal of experimental and clinical research 2018 Mar 24 1340-1358. Liu Yong, Cao Yu, Li Yaxiong, Lei Dongyun, Li Lin, Hou Zong Liu, Han Shen, Meng Mingyao, Shi Jianlin, Zhang Yayong, Wang Yi, Niu Zhaoyi, Xie Yanhua, Xiao Benshan, Wang Yuanfei, Li Xiao, Yang Lirong, Wang Wenju, Jiang Liho |
| Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatric pulmonology 2019 11 55 (2): 383-393. Emiralio?lu Nagehan, Ta?k?ran Ekim Z, Ko?ukcu Can, Bilgiç Elif, Atilla Pergin, Kaya Bengisu, Günayd?n Önder, Yüzba??o?lu Ay?e, Tu?cu Gökçen Dil?a, Ademhan Dilber, Ery?lmaz Polat Sanem, Gharibzadeh H?zal Mina, Yalç?n Ebru, Do?ru Deniz, Kiper Nural, Alika?ifo?lu Mehmet, Özçelik U? |
| Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. The Journal of pediatrics 2020 6 225 157-165.e5. Guo Zhuoyao, Chen Weicheng, Wang Libo, Qian Lili |
| The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. Sisli Etfal Hastanesi tip bulteni 2021 55 (2): 188-192. Kilinc Ayse Ayzit, Cebi Memnune Nur, Ocak Zeynep, Cokugras Haluk Cez |
| Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing. Yonsei medical journal 2021 2 62 (3): 224-230. Cho Eun Hye, Ki Chang Seok, Yun Sun Ae, Kim Su Young, Jhun Byung Woo, Koh Won Jung, Huh Hee Jae, Lee Nam Yo |
| Novel Gene Variants Associated with Primary Ciliary Dyskinesia. Indian journal of pediatrics 2022 3 89 (7): 682-691. Demir Eksi Durkadin, Yilmaz Elanur, Basaran A Erdem, Erduran Gizem, Nur Banu, Mihci Ercan, Karadag Bulent, Bingol Aysen, Alper Ozgul |
| Whole-Exome Sequencing Implicates the USP34 rs777591A > G Intron Variant in Chronic Obstructive Pulmonary Disease in a Kashi Cohort. Frontiers in cell and developmental biology 2021 9 792027. Xu Jingran, Li Li, Ren Jie, Zhong Xuemei, Xie Chengxin, Zheng Aifang, Abudukadier Ayiguzali, Tuerxun Maimaitiaili, Zhang Sujie, Tang Lifeng, Hairoula Dilare, Zou Xiaogua |
| Novel HYDIN variants associated with male infertility in two Chinese families. Frontiers in endocrinology 2023 2 14 1118841. Yu Hui, Shi Xiao, Shao Zhongmei, Geng Hao, Guo Senzhao, Li Kuokuo, Gu Meng, Xu Chuan, Gao Yang, Tan Qing, Duan Zongliu, Wu Huan, Hua Rong, Guo Rui, Wei Zhaolian, Zhou Ping, Cao Yunxia, He Xiaojin, Li Liang, Zhang Xiaoping, Lv Mingro |
| Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China. Italian journal of pediatrics 2024 4 50 (1): 62. Ye Jin, Miao Zhao, Qiuzhe Guo, Wanyu Zhao, Min Lei, Yifei Zhang, Yunhan Zhang, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun, Zhiling L |
| Long-Term Lung Function and Pseudomonas aeruginosa Infection in Genotyped Primary Ciliary Dyskinesia. Annals of the American Thoracic Society 2024 10 . Mathias G Holgersen, June K Marthin, Johanna Raidt, Tavs Qvist, Helle K Johansen, Heymut Omran, Kim G Niels |
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