LOSS OF HETEROZYGOSITY IN THE BRCA1 AND BRCA2 LOCUS IN BREAST CANCER by M. M. Tsyganov, M. K. Ibragimova, A. M. Pevzner, N. V. Litviakov

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Xq12q13.2 duplication detected in a child in selective exome screening by A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev

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Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects by Wanqin Xie, Lin Zhou, Ai Hu, Jing Chen, Jialun Pang, Hui Xi, Yingchun Luo, Jiancheng Hu, Shuting Yang, Xiaoyang Gao, Hanzhe Kuang, Wanglan Tang, Rui Liu, Silong Wang, Ying Peng

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Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis by Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

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Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements by Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang

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Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review by Liqing Jiang, Liqing Jiang, Liqing Jiang, Jiaqi Li, Aizhong Han, Aizhong Han, Aizhong Han, Fei Hou, Fei Hou, Fei Hou, Xiaotong Wei, Yanjun Tian, Yanjun Tian, Yanjun Tian

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From unipotency to pluripotency: deciphering protein networks and signaling pathways in the generation of embryonic stem-like cells from murine spermatogonial stem cells by Nima Ghasemi, Hossein Azizi, Ali Qorbanee, Thomas Skutella

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Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome by Xi Yang, Rong Hu, Weiwei Huang, Jian Lu

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Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications by Himani Pandey, Jyoti Sharma, Sourabh Kumar, Nakul Mohan, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Ashish Kumar Dubey, Prativa Choudhury, Prabudh Goel

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Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing by Rui Guo, Chunhong Duan, Mehdi Zarrei, Miriam S. Reuter, Rui Dong, Guangye Zhang, Xiaomeng Yang, Haiyang Zhang, Ying Wang, Stephen W. Scherer, Yi Liu, Zhongtao Gai

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Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Rev... by Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu

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HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES by E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova

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