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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Cardiomyopathies and MYH6[original query]
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
American journal of medical genetics. Part A 2015 Aug .
Bowles Neil E, Jou Chuanchau J, Arrington Cammon B, Kennedy Brett J, Earl Aubree, Matsunami Norisada, Meyers Lindsay L, Etheridge Susan P, Saarel Elizabeth V, Bleyl Steven B, Yost H Joseph, Yandell Mark, Leppert Mark F, Tristani-Firouzi Martin, Gruber Peter J,
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Cardiovascular research 2020 1 116 (13): 2116-2130.
Hayashi Kenshi, Teramoto Ryota, Nomura Akihiro, Asano Yoshihiro, Beerens Manu, Kurata Yasutaka, Kobayashi Isao, Fujino Noboru, Furusho Hiroshi, Sakata Kenji, Onoue Kenji, Chiang David Y, Kiviniemi Tuomas O, Buys Eva, Sips Patrick, Burch Micah L, Zhao Yanbin, Kelly Amy E, Namura Masanobu, Kita Yoshihito, Tsuchiya Taketsugu, Kaku Bunji, Oe Kotaro, Takeda Yuko, Konno Tetsuo, Inoue Masaru, Fujita Takashi, Kato Takeshi, Funada Akira, Tada Hayato, Hodatsu Akihiko, Nakanishi Chiaki, Sakamoto Yuichiro, Tsuda Toyonobu, Nagata Yoji, Tanaka Yoshihiro, Okada Hirofumi, Usuda Keisuke, Cui Shihe, Saito Yoshihiko, MacRae Calum A, Takashima Seiji, Yamagishi Masakazu, Kawashiri Masa-Aki, Takamura Masayu
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
PeerJ 2021 2 9 e10711.
Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Orphanet journal of rare diseases 2022 10 17 (1): 394.
Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.
Prenatal diagnosis 2024 5 .
Maja Dolanc Merc, Urška Kotnik, Borut Peterlin, Luca Lovrec
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