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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 - 3 (of 3 Records)

Query Trace: Syndrome and PAFAH1B1[original query]
[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
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.
The Journal of molecular diagnostics : JMD 2023 4 .
Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka
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