De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome by Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder by Soha S. Mahdi, Eduarda Caldeira, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Meng Yuan, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Michael Bronstein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

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Microglia depletion reduces neurodegeneration and remodels extracellular matrix in a mouse Parkinson’s disease model triggered by α-synuclein overexpression by Zhen Zhang, Kun Niu, Taoying Huang, Jiali Guo, Gongbikai Xarbat, Xiaoli Gong, Yunke Gao, Feiyang Liu, Shan Cheng, Wenting Su, Fei Yang, Zhaoyuan Liu, Florent Ginhoux, Ting Zhang

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Epidemiology of hereditary eye disease in the populations of Russian Federation by V.V. Kadyshev, E.K. Ginter, S.I. Kutsev, Zh.G. Oganezova, R.A. Zinchenko

“…Zinchenko^1,3</b> </p> <p> <b>¹Research Center for Medical Genetics, Moscow, Russian Federation</b> </p> <p> <b>²Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <b>³N.A. …”
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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies by Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Natale Conti, Laura Cortesi, Rolando Maria D’Angelillo, Gaetano Facchini, Lorena Incorvaia, Alberto Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda, on behalf of the Italian Society of Uro-Oncology (SIUrO)

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Borrelia burgdorferi sensu lato inhibits CIITA transcription through pSTAT3 activation and enhanced SOCS1 and SOCS3 expression leading to limited IFN-γ production by Michelle A.E. Brouwer, Zara Karami, Samuel T. Keating, Hedwig Vrijmoeth, Heidi L.M. Lemmers, Helga Dijkstra, Frank L. van de Veerdonk, Mihaela Lupse, Hadewych J.M. ter Hofstede, Mihai G. Netea, Leo A.B. Joosten

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Case Report: Efficacy and safety of recombinant growth hormone therapy in a girl with Loeys–Dietz syndrome by Kamil Dyrka, Aleksander Jamsheer, Michal Bartecki, Waldemar Bobkowski, Malgorzata Pawelec-Wojtalik, Justyna Rajewska-Tabor, Andzelika Tomaszewska, Justyna Balcerzak, Zuzanna Aniol, Marek Niedziela, Monika Obara-Moszynska

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Diagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies by Hüseyin Avni Solgun

“…Among totally 19 patients, FX deficiency-P17 had a null mutation of FX gene and FV deficiency-P3 had a missense mutation of FV gene has been detected those both were severe deficencies. The medical genetics of the sibling patients with combined FVII deficency and hypofibrinogenemia have been evaluated, but the genetic results have not been completed yet. …”
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Influence of injection technique, drug formulation and tumor microenvironment on intratumoral immunotherapy delivery and efficacy by Patrick Hwu, Ravi Murthy, Aung Naing, Sapna P. Patel, Simon Young, Alda Tam, Nina M. Muñoz, Malea Williams, Katherine Dixon, Crystal Dupuis, Amanda McWatters, Rony Avritscher, Soraya Zorro Manrique, Kevin McHugh, David Leach, Jeffrey D. Hartgerink, Punit Prakash, Rahul A. Sheth

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Relationship between pharmacotherapy for major depressive disorder and healthcare utilisation in British Columbia, Canada: a retrospective population-based cohort by Sonya Cressman, Louisa Edwards, Kimberlyn McGrail, Stirling Bryan, Alison Hoens, Rohit Vijh, Sandra Peterson, Zeina Waheed, Mary Bunka, Nick Pang, Shahzad Ghanbarian, Gavin Wong, Linda Riches, Jehannine Austin

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Exploring aneuploidies in two-center isolated bovine embryonic stem cell lines: Implications for cultured meat production by Chloë Deelkens, Elly De Vlieghere, Mario Van Poucke, Masaki Kinoshita, Jeffrey Aalders, Lieven Thorrez, Bert Devriendt, Ann Van Soom, Luc Peelman, Björn Menten, Catharina De Schauwer, Jolanda van Hengel

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Tasquinimod suppresses tumor cell growth and bone resorption by targeting immunosuppressive myeloid cells and inhibiting c-MYC expression in multiple myeloma by Marie Törngren, Rong Fan, Eline Menu, Helena Eriksson, Karin Vanderkerken, Andrew Chantry, Hatice Satilmis, Niels Vandewalle, Emma Verheye, Philip Vlummens, Anke Maes, Catharina Muylaert, Elke De Bruyne, Holly Evans, Nathan De Beule, Dirk Hose, Ken Maes, Karine Breckpot, Kim De Veirman

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Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis by Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz

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YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database by Mengge Wang, Shuhan Duan, Qiuxia Sun, Kaijun Liu, Yan Liu, Zhiyong Wang, Xiangping Li, Lanhai Wei, Yunhui Liu, Shengjie Nie, Kun Zhou, 10K_CPGDP consortium, Yongxin Ma, Huijun Yuan, Bing Liu, Lan Hu, Chao Liu, Guanglin He

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Anosmia, dysgeusia and malnutrition in chronic kidney disease: A systematic review by Gaetano Ferrara, Sara Morales Palomares, Giuliano Anastasi, Mauro Parozzi, Lea Godino, Domenica Gazineo, Marco Sguanci, Stefano Mancin

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Two-field mydriatic fundus photography to assess the prevalence of macular disorder in diabetes by T.A. Avanesova, Zh.G. Oganezova, V.V. Anisimova, A.B. Baeva, D.H. Miaev

“…Miaev¹ </p> <p> ¹LLC "Liga+”, Reutov, Russian Federation </p> <p> ²LLC "Eye Microsurgery Center of Moscow Region", Sergiev Posad, Russian Federation </p> <p> ³Pirogov Russian National Research Medical University, Moscow, Russian Federation </p> <p> ⁴Research Center for Medical Genetics, Moscow, Russian Federation </p> <p> ⁵Central Clinical Hospital and Polyclinic of the Department for Presidential Affairs,&nbsp;&nbsp; Moscow, Russian Federation </p> <p> ⁶Hospital for War Veterans No. 2, Moscow, Russian Federation </p> <p> <b>Aim:</b> to evaluate the prevalence of macular dysfunction in patients with type 1 (T1D) and type 2 diabetes (T2D) of different age and sex based on fundus photographs. …”
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Re-evaluating large for gestational age: differential effects on perinatal outcomes in term and premature births by Chun-Heng Kuo, Chun-Heng Kuo, Chun-Heng Kuo, Yi-Ling Wu, Chi-Nien Chen, Chi-Nien Chen, Yu-Ru Lo, I-Weng Yen, Kang-Chih Fan, Yi-Yun Tai, Ming-Wei Lin, Chih-Cheng Hsu, Chih-Cheng Hsu, Chih-Cheng Hsu, Chih-Cheng Hsu, Hung-Yuan Li

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Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial by Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin

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The dilemma of X-linked agammaglobulinemia carriers by Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD

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Risk factors affecting polygenic score performance across diverse cohorts by Daniel Hui, Scott Dudek, Krzysztof Kiryluk, Theresa L Walunas, Iftikhar J Kullo, Wei-Qi Wei, Hemant Tiwari, Josh F Peterson, Wendy K Chung, Brittney H Davis, Atlas Khan, Leah C Kottyan, Nita A Limdi, Qiping Feng, Megan J Puckelwartz, Chunhua Weng, Johanna L Smith, Elizabeth W Karlson, Regeneron Genetics Center, Penn Medicine BioBank, Gail P Jarvik, Marylyn D Ritchie

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