Global Medical Genetics
Issue 01 · January 2024
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Issue
Original Article
001
Mir, Asif; Kamran, Zainab; Iqbal, Wajid:
Orchestration of Genetic Alterations in
PSEN1
and
PSEN2
Genes in Development of Alzheimer's Disease through Computational Analysis
Open Access
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PDF (10077 kb)
020
Li, Weiran; Lu, Xiaowei; Shu, Jianbo; Cai, Yingzi; Li, Dong; Cai, Chunquan:
Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy
Open Access
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PDF (1943 kb)
48
Li, Yang; Sun, Ting; Chen, Jia; Zhang, Lei:
Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study
Open Access
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PDF (6830 kb)
Supplementary Material
Supplementary Material
059
Muñoz-Novas, Carolina; González-Gascón-y-Marín, Isabel; Figueroa, Iñigo; Sánchez-Paz, Laura; Pérez-Carretero, Claudia; Quijada-Álamo, Miguel; Rodríguez-Vicente, Ana-Eugenia; Infante, María-Stefania; Foncillas, María-Ángeles; Landete, Elena; Churruca, Juan; Marín, Karen; Ramos, Victoria; Sánchez Salto, Alejandro; Hernández-Rivas, José-Ángel:
Association of Cytogenetics Aberrations and
IGHV
Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting
Open Access
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PDF (4548 kb)
Supplementary Material
Supplementary Material
069
Mozaffarizadeh, Hengameh; Mokarian, Fariborz; Salehi, Mansoor; Hakimian, Seyyed Mohammad Reza; Moazam, Elham; Amoozadehsamakoosh, Amirmohammad; Hosseinzadeh, Majid; Behnam, Mahdieh; Behjati, Mohaddeseh; Naseri, Alma; Lotfi, Marzieh; Tohidi, Fatemeh:
The Relationship between
VDR
Gene Polymorphisms
Bsm1
and
Apa1
with Breast Cancer Risk
Open Access
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PDF (1219 kb)
123
DiAdamo, Autumn; Chai, Hongyan; Chong, Mei Ling; Wang, Guilin; Wen, Jiadi; Jiang, Yong-Hui; Li, Peining:
Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
Open Access
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PDF (1315 kb)
Case Report
013
Sun, Mei; Li, Qing; Zhang, Ying; Cai, Yingzi; Dong, Yan; Shu, Jianbo; Li, Dong; Cai, Chunquan:
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
Open Access
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PDF (1934 kb)
025
Zhou, Feiyu; Yi, Gui; Liu, Xiangyu; Sheng, Wenchao; Shu, Jianbo; Li, Dong; Cai, Chunquan:
A Pair of Compound Heterozygous
IARS2
Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient
Open Access
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PDF (258 kb)
Review Article
029
Hasan, Rakibul:
The Multifaceted Role of Oxytocinergic System and
OXTR
Gene
Open Access
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PDF (167 kb)
036
Huang, Helen; Verma, Jay; Mok, Valerie; Bharadwaj, Hareesha R.; Alrawashdeh, Maen M.; Aratikatla, Adarsh; Sudan, Sourav; Talukder, Suprateeka; Habaka, Minatoullah; Tse, Gary; Bardhan, Mainak:
Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives
Open Access
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PDF (2207 kb)
076
Zaki, Zakiyyah M.M.; Ali, Siti A.; Ghazali, Mazira M.; Jam, Faidruz A.:
Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model
Open Access
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PDF (232 kb)
086
Xu, Chunwei; Wang, Qian; Wang, Dong; Wang, Wenxian; Fang, Wenfeng; Li, Ziming; Liu, Aijun; Yu, Jinpu; Zhong, Wenzhao; Wang, Zhijie; Zhang, Yongchang; Liu, Jingjing; Zhang, Shirong; Cai, Xiuyu; Liu, Anwen; Li, Wen; Zhan, Ping; Liu, Hongbing; Lv, Tangfeng; Miao, Liyun; Min, Lingfeng; Chen, Yu; Yuan, Jingping; Wang, Feng; Jiang, Zhansheng; Lin, Gen; Huang, Long; Pu, Xingxiang; Lin, Rongbo; Liu, Weifeng; Rao, Chuangzhou; Lv, Dongqing; Yu, Zongyang; Li, Xiaoyan; Tang, Chuanhao; Zhou, Chengzhi; Zhang, Junping; Xue, Junli; Guo, Hui; Chu, Qian; Meng, Rui; Wu, Jingxun; Zhang, Rui; Zhou, Jin; Zhu, Zhengfei; Li, Yongheng; Qiu, Hong; Xia, Fan; Lu, Yuanyuan; Chen, Xiaofeng; Ge, Rui; Dai, Enyong; Han, Yu; Pan, Weiwei; Pang, Fei; He, Qingqing; Huang, Jintao; Wang, Kai; Wu, Fan; Xu, Bingwei; Wang, Liping; Zhu, Youcai; Lin, Li; Xie, Yanru; Lin, Xinqing; Cai, Jing; Xu, Ling; Li, Jisheng; Jiao, Xiaodong; Li, Kainan; Wei, Jia; Feng, Huijing; Wang, Lin; Du, Yingying; Yao, Wang; Shi, Xuefei; Niu, Xiaomin; Yuan, Dongmei; Yao, Yanwen; Huang, Jianhui; Feng, Yue; Zhang, Yinbin; Sun, Pingli; Wang, Hong; Ye, Mingxiang; Wang, Zhaofeng; Hao, Yue; Wang, Zhen; Wan, Bin; Lv, Donglai; Yang, Shengjie; Kang, Jin; Zhang, Jiatao; Zhang, Chao; Ou, Juanjuan; Shi, Lin; Wang, Yina; Li, Bihui; Zhang, Zhang; Li, Zhongwu; Liu, Zhefeng; Yang, Nong; Wu, Lin; Wang, Huijuan; Jin, Gu; Wang, Guansong; Wang, Jiandong; Fang, Meiyu; Fang, Yong; Li, Yuan; Wang, Xiaojia; Zhang, Yiping; Zhu, Xixu; Shen, Yi; Ma, Shenglin; Wang, Biyun; Si, Lu; Song, Yong; Lu, Yuanzhi; Chen, Jing; Song, Zhengbo:
Expert Consensus on the Diagnosis and Treatment of
NRG1/2
Gene Fusion Solid Tumors
Open Access
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PDF (3252 kb)
100
Kelkar, Janhawi; DiMaio, Miriam; Ma, Deqiong; Zhang, Hui:
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in
SPR
and
ZNF142
: A Case Report and Review of the UPD2 Literature
Open Access
HTML
PDF (2748 kb)
113
Kolanu, Nikhil Deep:
CRISPR–Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications
Open Access
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PDF (234 kb)
Short Communication
034
Kanduc, Darja:
On the Pentapeptide as the Measurement Unit in Immunology
Open Access
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PDF (280 kb)
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