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	3101.	Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease-Associated Colorectal Cancers. [electronic resource] by Din, Shahida Wong, Kim Mueller, Mike F Oniscu, Anca Hewinson, James Black, Catherine J Miller, Martin L Jiménez-Sánchez, Alejandro Rabbie, Roy Rashid, Mamunar Satsangi, Jack Adams, David J Arends, Mark J Producer: 20191118 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3102.	Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. [electronic resource] by Garret, Philippine Bris, Céline Procaccio, Vincent Amati-Bonneau, Patrizia Vabres, Pierre Houcinat, Nada Tisserant, Emilie Feillet, François Bruel, Ange-Line Quéré, Virginie Philippe, Christophe Sorlin, Arthur Tran Mau-Them, Frédéric Vitobello, Antonio Costa, Jean-Marc Boughalem, Aïcha Trost, Detlef Faivre, Laurence Thauvin-Robinet, Christel Duffourd, Yannis Producer: 20200504 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3103.	Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. [electronic resource] by Oda, Yoichiro Uchiyama, Yuri Motomura, Ai Fujita, Atsushi Azuma, Yoshiteru Harita, Yutaka Mizuguchi, Takeshi Yanagi, Kumiko Ogata, Hiroko Hata, Kenichiro Kaname, Tadashi Matsubara, Yoichi Wakui, Keiko Matsumoto, Naomichi Producer: 20200514 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3104.	A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. [electronic resource] by Chen, Tao Zhang, Bin Ziegenhals, Thomas Prusty, Archana B Fröhler, Sebastian Grimm, Clemens Hu, Yuhui Schaefke, Bernhard Fang, Liang Zhang, Min Kraemer, Nadine Kaindl, Angela M Fischer, Utz Chen, Wei Producer: 20200129 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3105.	Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. [electronic resource] by Sun, Qi-Ying Xu, Qian Tian, Yun Hu, Zheng-Mao Qin, Li-Xia Yang, Jin-Xia Huang, Wen Xue, Jin Li, Jin-Chen Zeng, Sheng Wang, Ying Min, Hao-Xuan Chen, Xiao-Yu Wang, Jun-Pu Xie, Bin Liang, Fan Zhang, Hai-Nan Wang, Chun-Yu Lei, Li-Fang Yan, Xin-Xiang Xu, Hong-Wei Duan, Ran-Hui Xia, Kun Liu, Jing-Yu Jiang, Hong Shen, Lu Guo, Ji-Feng Tang, Bei-Sha Producer: 20200818 In: Brain : a journal of neurology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3106.	Exome Sequencing in Individuals with Isolated Biliary Atresia. [electronic resource] by Rajagopalan, Ramakrishnan Tsai, Ellen A Grochowski, Christopher M Kelly, Susan M Loomes, Kathleen M Spinner, Nancy B Devoto, Marcella Producer: 20201116 In: Scientific reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3107.	Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. [electronic resource] by Krenn, Martin Wagner, Matias Hotzy, Christoph Graf, Elisabeth Weber, Sandrina Brunet, Theresa Lorenz-Depiereux, Bettina Kasprian, Gregor Aull-Watschinger, Susanne Pataraia, Ekaterina Stogmann, Elisabeth Zimprich, Alexander Strom, Tim M Meitinger, Thomas Zimprich, Fritz Producer: 20210708 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3108.	Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing. [electronic resource] by Chen, Chonglin Huang, Sijian Sun, Limei Li, Songshan Huang, Li Wang, Zhirong Luo, Xiaoling Ding, Xiaoyan Producer: 20201120 In: American journal of ophthalmology vol. 218 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3109.	Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes. [electronic resource] by Wallander, Karin Liu, Wen von Holst, Susanna Thutkawkorapin, Jessada Kontham, Vinaykumar Forsberg, Anna Lindblom, Annika Lagerstedt-Robinson, Kristina Producer: 20200214 In: Genes, chromosomes & cancer vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3110.	Minimal spatial heterogeneity in chronic lymphocytic leukemia at diagnosis. [electronic resource] by Nadeu, Ferran Royo, Romina Maura, Francesco Dawson, Kevin J Dueso-Barroso, Ana Aymerich, Marta Pinyol, Magda Beà, Sílvia López-Guillermo, Armando Delgado, Julio Puente, Xose S Campo, Elías Producer: 20201027 In: Leukemia vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3111.	Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer. [electronic resource] by Radmanesh, Hoda Spethmann, Tessa Enßen, Julia Schürmann, Peter Bhuju, Sabin Geffers, Robert Antonenkova, Natalia Khusnutdinova, Elza Sadr-Nabavi, Ariane Shandiz, Fatemeh Homaei Park-Simon, Tjoung-Won Hillemanns, Peter Christiansen, Hans Bogdanova, Natalia Dörk, Thilo Producer: 20171207 In: Breast cancer research and treatment vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3112.	PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. [electronic resource] by Kämpe, A J Costantini, A Mäkitie, R E Jäntti, N Valta, H Mäyränpää, M Kröger, H Pekkinen, M Taylan, F Jiao, H Mäkitie, O Producer: 20180725 In: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3113.	Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection. [electronic resource] by Oates, Connor P Koenig, Darya Rhyne, Jeffrey Bogush, Nikolay O'Connell, Jeffrey Mitchell, Braxton D Miller, Michael Producer: 20190722 In: Journal of clinical lipidology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3114.	Integrative genomic and transcriptomic analysis of leiomyosarcoma. [electronic resource] by Chudasama, Priya Mughal, Sadaf S Sanders, Mathijs A Hübschmann, Daniel Chung, Inn Deeg, Katharina I Wong, Siao-Han Rabe, Sophie Hlevnjak, Mario Zapatka, Marc Ernst, Aurélie Kleinheinz, Kortine Schlesner, Matthias Sieverling, Lina Klink, Barbara Schröck, Evelin Hoogenboezem, Remco M Kasper, Bernd Heilig, Christoph E Egerer, Gerlinde Wolf, Stephan von Kalle, Christof Eils, Roland Stenzinger, Albrecht Weichert, Wilko Glimm, Hanno Gröschel, Stefan Kopp, Hans-Georg Omlor, Georg Lehner, Burkhard Bauer, Sebastian Schimmack, Simon Ulrich, Alexis Mechtersheimer, Gunhild Rippe, Karsten Brors, Benedikt Hutter, Barbara Renner, Marcus Hohenberger, Peter Scholl, Claudia Fröhling, Stefan Producer: 20180212 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3115.	Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. [electronic resource] by Lionel, Anath C Costain, Gregory Monfared, Nasim Walker, Susan Reuter, Miriam S Hosseini, S Mohsen Thiruvahindrapuram, Bhooma Merico, Daniele Jobling, Rebekah Nalpathamkalam, Thomas Pellecchia, Giovanna Sung, Wilson W L Wang, Zhuozhi Bikangaga, Peter Boelman, Cyrus Carter, Melissa T Cordeiro, Dawn Cytrynbaum, Cheryl Dell, Sharon D Dhir, Priya Dowling, James J Heon, Elise Hewson, Stacy Hiraki, Linda Inbar-Feigenberg, Michal Klatt, Regan Kronick, Jonathan Laxer, Ronald M Licht, Christoph MacDonald, Heather Mercimek-Andrews, Saadet Mendoza-Londono, Roberto Piscione, Tino Schneider, Rayfel Schulze, Andreas Silverman, Earl Siriwardena, Komudi Snead, O Carter Sondheimer, Neal Sutherland, Joanne Vincent, Ajoy Wasserman, Jonathan D Weksberg, Rosanna Shuman, Cheryl Carew, Chris Szego, Michael J Hayeems, Robin Z Basran, Raveen Stavropoulos, Dimitri J Ray, Peter N Bowdin, Sarah Meyn, M Stephen Cohn, Ronald D Scherer, Stephen W Marshall, Christian R Producer: 20180926 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3116.	Genomic features of renal cell carcinoma with venous tumor thrombus. [electronic resource] by Warsow, Gregor Hübschmann, Daniel Kleinheinz, Kortine Nientiedt, Cathleen Heller, Martina Van Coile, Laura Tolstov, Yanis Trennheuser, Lukas Wieczorek, Kathrin Pecqueux, Carine Gasch, Claudia Kuru, Timur Nyarangi-Dix, Joanne Hatiboglu, Gencay Teber, Dogu Perner, Sven Stenzinger, Albrecht Roth, Wilfried Hadaschik, Boris Pahernik, Sascha Jäger, Dirk Grüllich, Carsten Duensing, Anette Eils, Roland Schlesner, Matthias Sültmann, Holger Hohenfellner, Markus Duensing, Stefan Producer: 20191022 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3117.	Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease. [electronic resource] by Denson, Lee A Jurickova, Ingrid Karns, Rebekah Shaw, Kelly A Cutler, David J Okou, David T Dodd, Anne Quinn, Kathryn Mondal, Kajari Aronow, Bruce J Haberman, Yael Linn, Aaron Price, Adam Bezold, Ramona Lake, Kathleen Jackson, Kimberly Walters, Thomas D Griffiths, Anne Baldassano, Robert N Noe, Joshua D Hyams, Jeffrey S Crandall, Wallace V Kirschner, Barbara S Heyman, Melvin B Snapper, Scott Guthery, Stephen L Dubinsky, Marla C Leleiko, Neal S Otley, Anthony R Xavier, Ramnik J Stevens, Christine Daly, Mark J Zwick, Michael E Kugathasan, Subra Producer: 20180718 In: Gastroenterology vol. 154 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3118.	Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease. [electronic resource] by Tan, Adrian Y Zhang, Tuo Michaeel, Alber Blumenfeld, Jon Liu, Genyan Zhang, Wanying Zhang, Zhengmao Zhu, Yi Rennert, Lior Martin, Che Xiang, Jenny Salvatore, Steven P Robinson, Brian D Kapur, Sandip Donahue, Stephanie Bobb, Warren O Rennert, Hanna Producer: 20190913 In: Journal of the American Society of Nephrology : JASN vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3119.	Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. [electronic resource] by Lu, X Wang, Q Gu, H Zhang, X Qi, Y Liu, Y Producer: 20191114 In: Clinical genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3120.	The genomic landscape of UM-SCC oral cavity squamous cell carcinoma cell lines. [electronic resource] by Ludwig, Megan L Kulkarni, Aditi Birkeland, Andrew C Michmerhuizen, Nicole L Foltin, Susan K Mann, Jacqueline E Hoesli, Rebecca C Devenport, Samantha N Jewell, Brittany M Shuman, Andrew G Spector, Matthew E Carey, Thomas E Jiang, Hui Brenner, J Chad Producer: 20191213 In: Oral oncology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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