Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

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Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment by Parvaneh Karimzade, Aziz Eghbali, Mohammad Keramatipour, Reza Shiari, Zahra Golchehre, Mahdieh Taghizadeh, Mazdak Fallahi, Shahrzad Fallah, Nasrin Khakbazan Fard, Narges Eslami, Narges Bazgir, Mahnaz Jamee, Zahra Chavoshzadeh

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EPIMR: Prediction of Enhancer-Promoter Interactions by Multi-Scale ResNet on Image Representation by Qiaozhen Meng, Yinuo Lyu, Xiaoqing Peng, Junhai Xu, Jijun Tang, Fei Guo

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Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas by Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl

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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

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Liberties of the genome: insertions of mitochondrial DNA fragments into nuclear genome by M. V. Golubenko, V. P. Puzyrev

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Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia by Şule Altıner, Alper Han Çebi

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Post-translational modifications as a key mechanism for herpes simplex virus type I evasion of host innate immunity by Yongxing Zhang, Junlei Xie, Ying Feng, Abdul Qadeer, Shanni Li, Xu Deng, Lipeng Zhu, Bo Kong, Zanxian Xia, Zanxian Xia

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Association of TNF-857C>T, TNFRSF1A36A>G, and TNFRSF1B676T>G Polymorphisms with Ischemic Stroke in a Greek Population by Sofia Markoula, Anthoula Chatzikyriakidou, Sotirios Giannopoulos, Kargiotis Odysseas, Sofia Markou, Konstantinos Vemmos, Ioannis Georgiou, Athanassios P. Kyritsis

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Identification of Iron Homeostasis Genes Dysregulation Potentially Involved in Retinopathy of Prematurity Pathogenicity by Microarray Analysis by Xian-qiong Luo, Chun-yi Zhang, Jia-wen Zhang, Jing-bo Jiang, Ai-hua Yin, Li Guo, Chuan Nie, Xu-zai Lu, Hua Deng, Liang Zhang

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Sample Size and Statistical Power Calculation in Genetic Association Studies by Eun Pyo Hong, Ji Wan Park

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Observational study on Lifestyle Behaviours and Nutrition in individuals undergoing genetic counseling for breast or colorectal cancer risk by Lea Godino, Donatella Fabbro, Benedetta Bertonazzi, Daniela Turchetti

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Clinical trials to gene therapy development and production in Brazil: a review by Jonas Alex Morales Saute, Virginia Picanço-Castro, Ana Carolina de Freitas Lopes, João Batista da Silva Júnior, Johanna Henriques Nehm, Franciele dos Santos Maciel, Ida Vanessa Doederlein Schwartz, Juliana Maria Ferraz Sallum, Margareth Castro Ozelo, Roberto Giugliani, Martin Bonamino, Hilda Petrs-Silva, Guilherme Baldo

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Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes by Ilaria Filareto, Ilaria Mosca, Elena Freri, Francesca Ragona, Laura Canafoglia, Roberta Solazzi, Barbara Castellotti, Giuliana Messina, Cinzia Gellera, Maria Virginia Soldovieri, Paolo Ambrosino, Maurizio Taglialatela, Jacopo C. DiFrancesco, Tiziana Granata

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Gap Junctions Are Involved in the Rescue of CFTR-Dependent Chloride Efflux by Amniotic Mesenchymal Stem Cells in Coculture with Cystic Fibrosis CFBE41o- Cells by Annalucia Carbone, Roberto Zefferino, Elisa Beccia, Valeria Casavola, Stefano Castellani, Sante Di Gioia, Valentina Giannone, Manuela Seia, Antonella Angiolillo, Carla Colombo, Maria Favia, Massimo Conese

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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

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Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference by Olga Golounina, Ildar Minniakhmetov, Ramil Salakhov, Rita Khusainova, Ekaterina Zakharova, Igor Bychkov, Natalia Mokrysheva

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Positive feedback loop involving AMPK and CLYBL acetylation links metabolic rewiring and inflammatory responses by Wenke Wang, Boquan Wu, Mingjun Hao, Sichong Chen, Ruiting Cong, Wenjie Wu, Pengbo Wang, Qiaoyi Zhang, Pengyu Jia, Yuequn Song, Bo Liu, Siyao Qu, Jian-Fei Pei, Da Li, Naijin Zhang

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Expression study of Wnt/β-catenin signaling pathway associated lncRNAs in schizophrenia by Fatemeh Manafzadeh, Behzad Baradaran, Seyed Gholamreza Noor Azar, Kamran Javidi Aghdam, Reza Dabbaghipour, Asghar Shayannia, Soudeh Ghafouri-Fard

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A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia by Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

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