Case Reportposted 2025-11-06 04:14:35
Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysis
Maria Carolina Florez Polo, Lina Johanna Moreno Giraldo
Under Review
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Research Articleposted 2025-08-19 12:30:29
SLC8A1 as a novel susceptibility gene in facilitating tendinopathy: Insights into Its Mechanisms from Mendelian Randomization and Experimental Validation
Junjie Tang, Ziqi Zhou, Weijie Wu, Peng Shen, Xinyuan Wu, Jianye Liu, Minhao Chen, and 1 more authors
Published
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Case Reportposted 2025-08-11 10:50:34
A Case of Myelodysplastic Syndrome with Atypical Cytogenetics: A Case Report
Sanka Paranavithana, Senani Williams, Mahendra Somathilaka, Devinda Jayathilaka, Nirmani Kaluarachchi, Prasanna Galhena
Under Review
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Case Reportposted 2025-08-07 04:03:53
Proximal 4p Deletion Syndrome in a Woman With Developmental Delay: A Case Report and Literature Review
Liqiang Wei, Yu He, Denghe Liu, Xiaojv Chi, Xi Qin
Published
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Short Reportposted 2025-07-17 17:30:07
Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing
Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Anne Boland, Jean-François Deleuze, and 3 more authors
Published
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Case Reportposted 2024-11-13 06:29:08
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: A case report highlighting autoimmune and neurological implications
Annalaura Montanari, Paola Caforio, Annalisa Paparella, Paola Casieri, Maria Cristina Nuzzi, Maria Fatima Antonucci, Claudia Rita Catacchio, and 6 more authors
Published
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Research Articleposted 2024-09-25 17:40:46
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications
Ziying Yang, Michael Baudis, Paula Carrio-Cordo
Published
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Research Articleposted 2023-09-11 14:20:14
Characteristics and mechanisms of X chromosome translocation
Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, and 2 more authors
Published
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Research Articleposted 2023-08-21 13:47:08
Chromosomal Microarray Analysis for Prenatal Diagnosis of Uniparental Disomy: A Retrospective Study
chenxia xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng
Published
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Research Articleposted 2023-03-29 22:58:10
Applications of non-invasive prenatal testing in 91280 spontaneous pregnancies and 3477 pregnant women undergoing in vitro Fertilization
Rong Wei Wei, Jingran Li, Xinran Lu, Miaomiao Zhang, Yuqin Fang, Yuanyuan Xia, Chaohong Wang, and 1 more authors
Published
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