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	3741.	Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules. [electronic resource] by Nissen, Sara Konstantin Christiansen, Mette Helleberg, Marie Kjær, Kathrine Jørgensen, Sofie Eg Gerstoft, Jan Katzenstein, Terese L Benfield, Thomas Kronborg, Gitte Larsen, Carsten S Laursen, Alex Pedersen, Gitte Jakobsen, Martin R Tolstrup, Martin Mogensen, Trine H Producer: 20191104 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3742.	Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis. [electronic resource] by Xu, Shiqiong Moss, Tyler J Laura Rubin, Maria Ning, Jing Eterovic, Karina Yu, Hong Jia, Renbing Fan, Xianqun Tetzlaff, Michael T Esmaeli, Bita Producer: 20210708 In: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3743.	Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies. [electronic resource] by Chong, Michael Yoon, Grace Susan-Resiga, Delia Chamberland, Ann Cheillan, David Paré, Guillaume Seidah, Nabil G Producer: 20200610 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)
	3744.	Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. [electronic resource] by Xia, Wenjun Hu, Jiongjiong Ma, Jing Huang, Jianbo Wang, Xu Jiang, Nan Zhang, Jin Ma, Zhaoxin Ma, Duan Producer: 20200903 In: Clinical genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3745.	Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7. [electronic resource] by Marg, Andreas Escobar, Helena Karaiskos, Nikos Grunwald, Stefanie A Metzler, Eric Kieshauer, Janine Sauer, Sascha Pasemann, Diana Malfatti, Edoardo Mompoint, Dominique Quijano-Roy, Susanna Boltengagen, Anastasiya Schneider, Joanna Schülke, Markus Kunz, Séverine Carlier, Robert Birchmeier, Carmen Amthor, Helge Spuler, Andreas Kocks, Christine Rajewsky, Nikolaus Spuler, Simone Producer: 20200402 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3746.	Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. [electronic resource] by Kameya, Shuhei Fujinami, Kaoru Ueno, Shinji Hayashi, Takaaki Kuniyoshi, Kazuki Ideta, Ryuichi Kikuchi, Sachiko Kubota, Daiki Yoshitake, Kazutoshi Katagiri, Satoshi Sakuramoto, Hiroyuki Kominami, Taro Terasaki, Hiroko Yang, Lizhu Fujinami-Yokokawa, Yu Liu, Xiao Arno, Gavin Pontikos, Nikolas Miyake, Yozo Iwata, Takeshi Tsunoda, Kazushige Producer: 20191227 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3747.	A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. [electronic resource] by Smith, Claire E L Whitehouse, Laura L E Poulter, James A Wilkinson Hewitt, Laura Nadat, Fatima Jackson, Brian R Manfield, Iain W Edwards, Thomas A Rodd, Helen D Inglehearn, Chris F Mighell, Alan J Producer: 20210812 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3748.	Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency. [electronic resource] by Mazurova, Stella Tesarova, Marketa Zeman, Jiri Stranecky, Viktor Hansikova, Hana Baxova, Alica Giertlova, Maria Lastuvkova, Jana Chovanova, Vanda Rusnakova, Simona Knapkova, Maria Minarik, Gabriel Honzik, Tomas Magner, Martin Producer: 20210315 In: The Journal of dermatology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3749.	Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia. [electronic resource] by Togasaki, E Takeda, J Yoshida, K Shiozawa, Y Takeuchi, M Oshima, M Saraya, A Iwama, A Yokote, K Sakaida, E Hirase, C Takeshita, A Imai, K Okumura, H Morishita, Y Usui, N Takahashi, N Fujisawa, S Shiraishi, Y Chiba, K Tanaka, H Kiyoi, H Ohnishi, K Ohtake, S Asou, N Kobayashi, Y Miyazaki, Y Miyano, S Ogawa, S Matsumura, I Nakaseko, C Naoe, T Producer: 20180213 In: Blood cancer journal vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3750.	Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. [electronic resource] by Sollis, Elliot Deriziotis, Pelagia Saitsu, Hirotomo Miyake, Noriko Matsumoto, Naomichi Hoffer, Mariëtte J V Ruivenkamp, Claudia A L Alders, Mariëlle Okamoto, Nobuhiko Bijlsma, Emilia K Plomp, Astrid S Fisher, Simon E Producer: 20180530 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3751.	Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. [electronic resource] by Wagner, Alex H Devarakonda, Siddhartha Skidmore, Zachary L Krysiak, Kilannin Ramu, Avinash Trani, Lee Kunisaki, Jason Masood, Ashiq Waqar, Saiama N Spies, Nicholas C Morgensztern, Daniel Waligorski, Jason Ponce, Jennifer Fulton, Robert S Maggi, Leonard B Weber, Jason D Watson, Mark A O'Conor, Christopher J Ritter, Jon H Olsen, Rachelle R Cheng, Haixia Mukhopadhyay, Anandaroop Can, Ismail Cessna, Melissa H Oliver, Trudy G Mardis, Elaine R Wilson, Richard K Griffith, Malachi Griffith, Obi L Govindan, Ramaswamy Producer: 20181218 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3752.	A novel intronic mutation of [electronic resource] by Tatour, Yasmin Tamaiev, Jonathan Shamaly, Shamaly Colombo, Roberto Bril, Ephrat Rabinowitz, Tom Yaakobi, Alona Mezer, Eedy Leibu, Rina Tiosano, Beatrice Shomron, Noam Chowers, Itay Banin, Eyal Sharon, Dror Ben-Yosef, Tamar Producer: 20190614 In: Molecular vision vol. 25 Availability: No items available. Save to lists Add to cart (remove)
	3753.	A high definition picture of key genes and pathways mutated in pediatric follicular lymphoma. [electronic resource] by Lovisa, Federica Binatti, Andrea Coppe, Alessandro Primerano, Simona Carraro, Elisa Pillon, Marta Pizzi, Marco Guzzardo, Vincenza Buffardi, Salvatore Porta, Fulvio Farruggia, Piero De Santis, Raffaela Bulian, Pietro Basso, Giuseppe Lazzari, Elena d'Amore, Emanuele S G Bortoluzzi, Stefania Mussolin, Lara Producer: 20200728 In: Haematologica vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3754.	Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease. [electronic resource] by Zhu, Min Lu, Tianshi Jia, Yuemeng Luo, Xin Gopal, Purva Li, Lin Odewole, Mobolaji Renteria, Veronica Singal, Amit G Jang, Younghoon Ge, Kai Wang, Sam C Sorouri, Mahsa Parekh, Justin R MacConmara, Malcolm P Yopp, Adam C Wang, Tao Zhu, Hao Producer: 20200115 In: Cell vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3755.	POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas. [electronic resource] by Calvete, Oriol Garcia-Pavia, Pablo Domínguez, Fernando Mosteiro, Lluc Pérez-Cabornero, Lucía Cantalapiedra, Diego Zorio, Esther Ramón Y Cajal, Teresa Crespo-Leiro, Maria G Teulé, Álex Lázaro, Conxi Morente, Manuel M Urioste, Miguel Benitez, Javier Producer: 20200914 In: Journal of the American Heart Association vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3756.	Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [electronic resource] by Rokita, Jo Lynne Rathi, Komal S Cardenas, Maria F Upton, Kristen A Jayaseelan, Joy Cross, Katherine L Pfeil, Jacob Egolf, Laura E Way, Gregory P Farrel, Alvin Kendsersky, Nathan M Patel, Khushbu Gaonkar, Krutika S Modi, Apexa Berko, Esther R Lopez, Gonzalo Vaksman, Zalman Mayoh, Chelsea Nance, Jonas McCoy, Kristyn Haber, Michelle Evans, Kathryn McCalmont, Hannah Bendak, Katerina Böhm, Julia W Marshall, Glenn M Tyrrell, Vanessa Kalletla, Karthik Braun, Frank K Qi, Lin Du, Yunchen Zhang, Huiyuan Lindsay, Holly B Zhao, Sibo Shu, Jack Baxter, Patricia Morton, Christopher Kurmashev, Dias Zheng, Siyuan Chen, Yidong Bowen, Jay Bryan, Anthony C Leraas, Kristen M Coppens, Sara E Doddapaneni, HarshaVardhan Momin, Zeineen Zhang, Wendong Sacks, Gregory I Hart, Lori S Krytska, Kateryna Mosse, Yael P Gatto, Gregory J Sanchez, Yolanda Greene, Casey S Diskin, Sharon J Vaske, Olena Morozova Haussler, David Gastier-Foster, Julie M Kolb, E Anders Gorlick, Richard Li, Xiao-Nan Reynolds, C Patrick Kurmasheva, Raushan T Houghton, Peter J Smith, Malcolm A Lock, Richard B Raman, Pichai Wheeler, David A Maris, John M Producer: 20200924 In: Cell reports vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3757.	Genotypic drug resistance using whole-genome sequencing of Mycobacterium tuberculosis clinical isolates from North-western Tanzania. [electronic resource] by Kidenya, Benson R Mshana, Stephen E Fitzgerald, Daniel W Ocheretina, Oksana Producer: 20190225 In: Tuberculosis (Edinburgh, Scotland) vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3758.	Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures. [electronic resource] by Kan, Zhengyan Ding, Ying Kim, Jinho Jung, Hae Hyun Chung, Woosung Lal, Samir Cho, Soonweng Fernandez-Banet, Julio Lee, Se Kyung Kim, Seok Won Lee, Jeong Eon Choi, Yoon-La Deng, Shibing Kim, Ji-Yeon Ahn, Jin Seok Sha, Ying Mu, Xinmeng Jasmine Nam, Jae-Yong Im, Young-Hyuck Lee, Soohyeon Park, Woong-Yang Nam, Seok Jin Park, Yeon Hee Producer: 20181211 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3759.	Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome. [electronic resource] by Li, Bojian Chen, Sun Sun, Kun Xu, Rang Wu, Yurong Producer: 20180424 In: DNA and cell biology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3760.	Functional variants in the [electronic resource] by Hui, Ken Y Fernandez-Hernandez, Heriberto Hu, Jianzhong Schaffner, Adam Pankratz, Nathan Hsu, Nai-Yun Chuang, Ling-Shiang Carmi, Shai Villaverde, Nicole Li, Xianting Rivas, Manual Levine, Adam P Bao, Xiuliang Labrias, Philippe R Haritunians, Talin Ruane, Darren Gettler, Kyle Chen, Ernie Li, Dalin Schiff, Elena R Pontikos, Nikolas Barzilai, Nir Brant, Steven R Bressman, Susan Cheifetz, Adam S Clark, Lorraine N Daly, Mark J Desnick, Robert J Duerr, Richard H Katz, Seymour Lencz, Todd Myers, Richard H Ostrer, Harry Ozelius, Laurie Payami, Haydeh Peter, Yakov Rioux, John D Segal, Anthony W Scott, William K Silverberg, Mark S Vance, Jeffery M Ubarretxena-Belandia, Iban Foroud, Tatiana Atzmon, Gil Pe'er, Itsik Ioannou, Yiannis McGovern, Dermot P B Yue, Zhenyu Schadt, Eric E Cho, Judy H Peter, Inga Producer: 20190318 In: Science translational medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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