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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Miller-dieker Syndrome[original query]
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
NPJ genomic medicine 2016 1 16033.
Mak Christopher C Y, Chow Pak Cheong, Liu Anthony P Y, Chan Kelvin Y K, Chu Yoyo W Y, Mok Gary T K, Leung Gordon K C, Yeung Kit San, Chau Adolphus K T, Lowther Chelsea, Scherer Stephen W, Marshall Christian R, Bassett Anne S, Chung Brian H
[Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 1 38 (1): 71-73.
Duan Fuhua, Kong Xiangdo
Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
BMC medical genomics 2022 12 15 (1): 268.
Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wu Xiaoqing, Chen Lingji, Lin Na, Huang Hailong, Xu Liang
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