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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: Disease and SMC3[original query]
Whole-exome sequencing reveals the spectrum of gene mutations and the clonal evolution patterns in paediatric acute myeloid leukaemia.
British journal of haematology 2016 Jul .
Shiba Norio, Yoshida Kenichi, Shiraishi Yuichi, Okuno Yusuke, Yamato Genki, Hara Yusuke, Nagata Yasunobu, Chiba Kenichi, Tanaka Hiroko, Terui Kiminori, Kato Motohiro, Park Myoung-Ja, Ohki Kentaro, Shimada Akira, Takita Junko, Tomizawa Daisuke, Kudo Kazuko, Arakawa Hirokazu, Adachi Souichi, Taga Takashi, Tawa Akio, Ito Etsuro, Horibe Keizo, Sanada Masashi, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhi
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 21 (3): 663-675.
Yuan Bo, Neira Juanita, Pehlivan Davut, Santiago-Sim Teresa, Song Xiaofei, Rosenfeld Jill, Posey Jennifer E, Patel Vipulkumar, Jin Weihong, Adam Margaret P, Baple Emma L, Dean John, Fong Chin-To, Hickey Scott E, Hudgins Louanne, Leon Eyby, Madan-Khetarpal Suneeta, Rawlins Lettie, Rustad Cecilie F, Stray-Pedersen Asbjørg, Tveten Kristian, Wenger Olivia, Diaz Jullianne, Jenkins Laura, Martin Laura, McGuire Marianne, Pietryga Marguerite, Ramsdell Linda, Slattery Leah, , Abid Farida, Bertuch Alison A, Grange Dorothy, Immken LaDonna, Schaaf Christian P, Van Esch Hilde, Bi Weimin, Cheung Sau Wai, Breman Amy M, Smith Janice L, Shaw Chad, Crosby Andrew H, Eng Christine, Yang Yaping, Lupski James R, Xiao Rui, Liu Pengf
[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 493-497.
Miao Yequan, Zhu Yueyue, Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong, Ning Ying, Pan Qio
[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 449-451.
Sun Yuanyuan, Chen Cuie, Di Tianwei, Shao Haoran, Zhu Ronghe, Zhu Yanke, Zhou Aihua, Wang Q
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.
Leukemia research 2022 5 118 106859.
Liu Jie, Qin Wei, Wang Biao, Wang Zheng, Hua Haiying, Zhou Feng, Jia Zhuxia, Wu Pin, Chao Hongying, Lu Xuzha
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