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	3921.	Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes. [electronic resource] by Benzoni, Patrizia Campostrini, Giulia Landi, Sara Bertini, Valeria Marchina, Eleonora Iascone, Maria Ahlberg, Gustav Olesen, Morten Salling Crescini, Elisabetta Mora, Cristina Bisleri, Gianluigi Muneretto, Claudio Ronca, Roberto Presta, Marco Poliani, Pier Luigi Piovani, Giovanna Verardi, Rosanna Di Pasquale, Elisa Consiglio, Antonella Raya, Angel Torre, Eleonora Lodrini, Alessandra Maria Milanesi, Raffaella Rocchetti, Marcella Baruscotti, Mirko DiFrancesco, Dario Memo, Maurizio Barbuti, Andrea Dell'Era, Patrizia Producer: 20210208 In: Cardiovascular research vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3922.	Expanding the spectrum of genes responsible for hereditary motor neuropathies. [electronic resource] by Previtali, Stefano C Zhao, Edward Lazarevic, Dejan Pipitone, Giovanni Battista Fabrizi, Gian Maria Manganelli, Fiore Mazzeo, Anna Pareyson, Davide Schenone, Angelo Taroni, Franco Vita, Giuseppe Bellone, Emilia Ferrarini, Moreno Garibaldi, Matteo Magri, Stefania Padua, Luca Pennisi, Elena Pisciotta, Chiara Riva, Nilo Scaioli, Vidmer Scarlato, Marina Tozza, Stefano Geroldi, Alessandro Jordanova, Albena Ferrari, Maurizio Molineris, Ivan Reilly, Mary M Comi, Giancarlo Carrera, Paola Devoto, Marcella Bolino, Alessandra Producer: 20200618 In: Journal of neurology, neurosurgery, and psychiatry vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3923.	Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. [electronic resource] by Du, Xiaofei Carvalho-de-Souza, Joao L Wei, Cenfu Carrasquel-Ursulaez, Willy Lorenzo, Yenisleidy Gonzalez, Naileth Kubota, Tomoya Staisch, Julia Hain, Timothy Petrossian, Natalie Xu, Michael Latorre, Ramon Bezanilla, Francisco Gomez, Christopher M Producer: 20200713 In: Proceedings of the National Academy of Sciences of the United States of America vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3924.	Anti-tumor immune response varies among individuals: A gene expression profiling of mouse melanoma. [electronic resource] by Yang, Xiaoyue Ma, Zhiming Zhang, Ying Wu, Jingcheng Huang, Jin Zhao, Wenyi Mo, Fan Lin, Zhiwei Xu, Yingchun Zhou, Zhan Chen, Shuqing Producer: 20201124 In: International immunopharmacology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3925.	A rare missense variant in the milk fat globule-EGF factor 8 (MFGE8) increases T2DM susceptibility and cardiovascular disease risk with population-specific effects. [electronic resource] by Sapkota, Bishwa R Sanghera, Dharambir K Producer: 20200820 In: Acta diabetologica vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3926.	Methylation silencing of TGF-β receptor type II is involved in malignant transformation of esophageal squamous cell carcinoma. [electronic resource] by Ma, Yarui He, Siyuan Gao, Aiai Zhang, Ying Zhu, Qing Wang, Pei Yang, Beibei Yin, Huihui Li, Yifei Song, Jinge Yue, Pinli Li, Mo Zhang, Dandan Liu, Yun Wang, Xiaobing Guo, Mingzhou Jiao, Yuchen Producer: 20210602 In: Clinical epigenetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3927.	Novel somatic alterations underlie Chinese papillary thyroid carcinoma. [electronic resource] by Yang, Chuanjia Xu, Weixue Gong, Jian Liu, Zhen Cui, Dongxu Producer: 20201201 In: Cancer biomarkers : section A of Disease markers vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3928.	Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer. [electronic resource] by Liu, David Abbosh, Philip Keliher, Daniel Reardon, Brendan Miao, Diana Mouw, Kent Weiner-Taylor, Amaro Wankowicz, Stephanie Han, Garam Teo, Min Yuen Cipolla, Catharine Kim, Jaegil Iyer, Gopa Al-Ahmadie, Hikmat Dulaimi, Essel Chen, David Y T Alpaugh, R Katherine Hoffman-Censits, Jean Garraway, Levi A Getz, Gad Carter, Scott L Bellmunt, Joaquim Plimack, Elizabeth R Rosenberg, Jonathan E Van Allen, Eliezer M Producer: 20181001 In: Nature communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3929.	A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. [electronic resource] by Wang, Wenjie Yang, Jianping Xue, Jinjie Mu, Wenjuan Zhang, Xiaogang Wu, Wang Xu, Mengnan Gong, Yuyan Liu, Yiqian Zhang, Yu Xie, Xiaobing Gu, Weiyue Bai, Jigeng Cram, David S Producer: 20190819 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3930.	p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. [electronic resource] by Loveday, Chey Josephs, Katherine Chubb, Daniel Gunning, Adam Izatt, Louise Tischkowitz, Marc Ellard, Sian Turnbull, Clare Producer: 20190910 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3931.	Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. [electronic resource] by Mann, Nina Braun, Daniela A Amann, Kassaundra Tan, Weizhen Shril, Shirlee Connaughton, Dervla M Nakayama, Makiko Schneider, Ronen Kitzler, Thomas M van der Ven, Amelie T Chen, Jing Ityel, Hadas Vivante, Asaf Majmundar, Amar J Daga, Ankana Warejko, Jillian K Lovric, Svjetlana Ashraf, Shazia Jobst-Schwan, Tilman Widmeier, Eugen Hugo, Hannah Mane, Shrikant M Spaneas, Leslie Somers, Michael J G Ferguson, Michael A Traum, Avram Z Stein, Deborah R Baum, Michelle A Daouk, Ghaleb H Lifton, Richard P Manzi, Shannon Vakili, Khashayar Kim, Heung Bae Rodig, Nancy M Hildebrandt, Friedhelm Producer: 20191104 In: Journal of the American Society of Nephrology : JASN vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3932.	Gene Expression Analyses in Non Muscle Invasive Bladder Cancer Reveals a Role for Alternative Splicing and Tp53 Status. [electronic resource] by Dueñas, Marta Pérez-Figueroa, Andrés Oliveira, Carla Suárez-Cabrera, Cristian Sousa, Abel Oliveira, Patricia Villacampa, Felipe Paramio, Jesús M Martínez-Fernández, Mónica Producer: 20201026 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3933.	None [electronic resource] by Hermle, Tobias Schneider, Ronen Schapiro, David Braun, Daniela A van der Ven, Amelie T Warejko, Jillian K Daga, Ankana Widmeier, Eugen Nakayama, Makiko Jobst-Schwan, Tilman Majmundar, Amar J Ashraf, Shazia Rao, Jia Finn, Laura S Tasic, Velibor Hernandez, Joel D Bagga, Arvind Jalalah, Sawsan M El Desoky, Sherif Kari, Jameela A Laricchia, Kristen M Lek, Monkol Rehm, Heidi L MacArthur, Daniel G Mane, Shrikant Lifton, Richard P Shril, Shirlee Hildebrandt, Friedhelm 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)
	3934.	Expression of myeloid Src-family kinases is associated with poor prognosis in AML and influences Flt3-ITD kinase inhibitor acquired resistance. [electronic resource] by Patel, Ravi K Weir, Mark C Shen, Kexin Snyder, Daniel Cooper, Vaughn S Smithgall, Thomas E Producer: 20200324 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3935.	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. [electronic resource] by Bekheirnia, Mir Reza Bekheirnia, Nasim Bainbridge, Matthew N Gu, Shen Coban Akdemir, Zeynep Hande Gambin, Tomek Janzen, Nicolette K Jhangiani, Shalini N Muzny, Donna M Michael, Mini Brewer, Eileen D Elenberg, Ewa Kale, Arundhati S Riley, Alyssa A Swartz, Sarah J Scott, Daryl A Yang, Yaping Srivaths, Poyyapakkam R Wenderfer, Scott E Bodurtha, Joann Applegate, Carolyn D Velinov, Milen Myers, Angela Borovik, Lior Craigen, William J Hanchard, Neil A Rosenfeld, Jill A Lewis, Richard Alan Gonzales, Edmond T Gibbs, Richard A Belmont, John W Roth, David R Eng, Christine Braun, Michael C Lupski, James R Lamb, Dolores J Producer: 20180116 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3936.	A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. [electronic resource] by Liu, Hong-Zhou Du, Chun-Xian Luo, Jing Qiu, Xue-Ping Li, Zu-Hua Lou, Qi-Yong Yin, Zhan Zheng, Fang Producer: 20180305 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3937.	Improved Therapeutic Window in [electronic resource] by Zhong, Haihong Chen, Cui Tammali, Ravinder Breen, Shannon Zhang, Jing Fazenbaker, Christine Kennedy, Maureen Conway, James Higgs, Brandon W Holoweckyj, Nicholas Raja, Rajiv Harper, Jay Pierce, Andrew J Herbst, Ronald Tice, David A Producer: 20191125 In: Molecular cancer therapeutics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3938.	Exome Analysis Reveals Genomic Markers Associated with Better Efficacy of Nivolumab in Lung Cancer Patients. [electronic resource] by Richard, Corentin Fumet, Jean-David Chevrier, Sandy Derangère, Valentin Ledys, Fanny Lagrange, Aurélie Favier, Laure Coudert, Bruno Arnould, Laurent Truntzer, Caroline Boidot, Romain Ghiringhelli, François Producer: 20200413 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3939.	Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. [electronic resource] by Brooks, Brian P Zein, Wadih M Thompson, Amy H Mokhtarzadeh, Maryam Doherty, Daniel A Parisi, Melissa Glass, Ian A Malicdan, May C Vilboux, Thierry Vemulapalli, Meghana Mullikin, James C Gahl, William A Gunay-Aygun, Meral Producer: 20190916 In: Ophthalmology vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3940.	Multiple genome analyses reveal key genes in Vitamin C and Vitamin D synthesis and transport pathways are shared. [electronic resource] by Dong, Wei Tian, Cheng Jiao, Yan Blackwell, Savannah Lou, Ge Postlethwaite, Arnold Gu, Weikuan Sun, Dianjun Producer: 20201103 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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