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	3761.	Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. [electronic resource] by Itoh, Masayuki Ide, Shuhei Iwasaki, Yuji Saito, Takashi Narita, Keishi Dai, Hongmei Yamakura, Shinji Furue, Takeki Kitayama, Hirotsugu Maeda, Keiko Takahashi, Eihiko Matsui, Kiyoshi Goto, Yu-Ichi Takeda, Sen Arima, Masataka Producer: 20180820 In: Brain & development vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3762.	Corrupted coordination of epigenetic modifications leads to diverging chromatin states and transcriptional heterogeneity in CLL. [electronic resource] by Pastore, Alessandro Gaiti, Federico Lu, Sydney X Brand, Ryan M Kulm, Scott Chaligne, Ronan Gu, Hongcang Huang, Kevin Y Stamenova, Elena K Béguelin, Wendy Jiang, Yanwen Schulman, Rafael C Kim, Kyu-Tae Alonso, Alicia Allan, John N Furman, Richard R Gnirke, Andreas Wu, Catherine J Melnick, Ari M Meissner, Alexander Bernstein, Bradley E Abdel-Wahab, Omar Landau, Dan A Producer: 20190610 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3763.	The Association Between MUC5B Mutations and Clinical Outcome in Patients with Rheumatoid Arthritis-Associated Interstitial Lung Disease: A Retrospective Exploratory Study in China. [electronic resource] by Wang, Na Zhang, Qian Jing, Xiaoyan Guo, Jian Huang, Hui Xu, Zuojun Producer: 20210106 In: Medical science monitor : international medical journal of experimental and clinical research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3764.	Mutation position is an important determinant for predicting cancer neoantigens. [electronic resource] by Capietto, Aude-Hélène Jhunjhunwala, Suchit Pollock, Samuel B Lupardus, Patrick Wong, Jim Hänsch, Lena Cevallos, James Chestnut, Yajun Fernandez, Ajay Lounsbury, Nicolas Nozawa, Tamaki Singh, Manmeet Fan, Zhiyuan de la Cruz, Cecile C Phung, Qui T Taraborrelli, Lucia Haley, Benjamin Lill, Jennie R Mellman, Ira Bourgon, Richard Delamarre, Lélia Producer: 20201106 In: The Journal of experimental medicine vol. 217 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3765.	Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. [electronic resource] by Thorsen, Kasper Dam, Vibeke S Kjaer-Sorensen, Kasper Pedersen, Lisbeth N Skeberdis, V Arvydas Jurevičius, Jonas Treinys, Rimantas Petersen, Ida M B S Nielsen, Morten S Oxvig, Claus Morth, J Preben Matchkov, Vladimir V Aalkjær, Christian Bundgaard, Henning Jensen, Henrik K 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)
	3766.	Nivolumab maintenance after salvage autologous stem cell transplantation results in long-term remission in multiple relapsed primary CNS lymphoma. [electronic resource] by Terziev, Denis Hutter, Barbara Klink, Barbara Stenzinger, Albrecht Stögbauer, Fabian Glimm, Hanno Fröhling, Stefan Wickenhauser, Claudia Jordan, Karin Hurtz, Hans-Jürgen Müller, Lutz P Rüssel, Jörn Weber, Thomas Producer: 20181011 In: European journal of haematology vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3767.	Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. [electronic resource] by Angione, Katie Eschbach, Krista Smith, Garnett Joshi, Charuta Demarest, Scott Producer: 20190618 In: Epilepsy research vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3768.	Genetic and transcriptional landscape of plasma cells in POEMS syndrome. [electronic resource] by Nagao, Yuhei Mimura, Naoya Takeda, June Yoshida, Kenichi Shiozawa, Yusuke Oshima, Motohiko Aoyama, Kazumasa Saraya, Atsunori Koide, Shuhei Rizq, Ola Hasegawa, Yoshinori Shiraishi, Yuichi Chiba, Kenichi Tanaka, Hiroko Nishijima, Dai Isshiki, Yusuke Kayamori, Kensuke Kawajiri-Manako, Chika Oshima-Hasegawa, Nagisa Tsukamoto, Shokichi Mitsukawa, Shio Takeda, Yusuke Ohwada, Chikako Takeuchi, Masahiro Iseki, Tohru Misawa, Sonoko Miyano, Satoru Ohara, Osamu Yokote, Koutaro Sakaida, Emiko Kuwabara, Satoshi Sanada, Masashi Iwama, Atsushi Ogawa, Seishi Nakaseko, Chiaki Producer: 20191112 In: Leukemia vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3769.	Unstable Genome and Transcriptome Dynamics during Tumor Metastasis Contribute to Therapeutic Heterogeneity in Colorectal Cancers. [electronic resource] by Cho, Sung-Yup Chae, Jeesoo Na, Deukchae Kang, Wonyoung Lee, Ahra Min, Seoyeon Kang, Jinjoo Choi, Boram Lee, Jieun Sung, Chang Ohk Chuang, Jeffrey H Lee, Charles Lee, Won-Suk Park, Hansoo Kim, Jong-Il Producer: 20200619 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)
	3770.	Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. [electronic resource] by Kurki, Mitja I Saarentaus, Elmo Pietiläinen, Olli Gormley, Padhraig Lal, Dennis Kerminen, Sini Torniainen-Holm, Minna Hämäläinen, Eija Rahikkala, Elisa Keski-Filppula, Riikka Rauhala, Merja Korpi-Heikkilä, Satu Komulainen-Ebrahim, Jonna Helander, Heli Vieira, Päivi Männikkö, Minna Peltonen, Markku Havulinna, Aki S Salomaa, Veikko Pirinen, Matti Suvisaari, Jaana Moilanen, Jukka S Körkkö, Jarmo Kuismin, Outi Daly, Mark J Palotie, Aarno Producer: 20190222 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3771.	Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report. [electronic resource] by Li, Guo-Min Liu, Hai-Mei Guan, Wan-Zhen Xu, Hong Wu, Bing-Bing Sun, Li Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3772.	Exploring targets of TET2-mediated methylation reprogramming as potential discriminators of prostate cancer progression. [electronic resource] by Kamdar, Shivani Isserlin, Ruth Van der Kwast, Theodorus Zlotta, Alexandre R Bader, Gary D Fleshner, Neil E Bapat, Bharati Producer: 20200121 In: Clinical epigenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3773.	IGF1R as druggable target mediating PI3K-δ inhibitor resistance in a murine model of chronic lymphocytic leukemia. [electronic resource] by Scheffold, Annika Jebaraj, Billy Michael Chelliah Tausch, Eugen Bloehdorn, Johannes Ghia, Paolo Yahiaoui, Anella Dolnik, Anna Blätte, Tamara Jacqueline Bullinger, Lars Dheenadayalan, Rashmi Priyadharshini Li, Li Schneider, Christof Chen, Shih-Shih Chiorazzi, Nicholas Dietrich, Sascha Seiffert, Martina Tannheimer, Stacey Döhner, Hartmut Mertens, Daniel Stilgenbauer, Stephan Producer: 20200114 In: Blood vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3774.	Exome Sequencing of ABCB5 Identifies Recurrent Melanoma Mutations that Result in Increased Proliferative and Invasive Capacities. [electronic resource] by Sana, Géraldine Madigan, James P Gartner, Jared J Fourrez, Marie Lin, Jimmy Qutob, Nouar Narayan, Jitendra Shukla, Suneet Ambudkar, Suresh V Xia, Di Rosenberg, Steven A Gottesman, Michael M Samuels, Yardena Gillet, Jean-Pierre Producer: 20200615 In: The Journal of investigative dermatology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3775.	Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway. [electronic resource] by Xia, Wenjun Hu, Jiongjiong Ma, Jing Huang, Jianbo Jing, Tianrui Deng, Lisha Zhang, Jin Jiang, Nan Ma, Duan Ma, Zhaoxin Producer: 20200604 In: FEBS letters vol. 593 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3776.	Whole-Exome Sequencing of Sinonasal Small Cell Carcinoma Arising within a Papillary Schneiderian Carcinoma In Situ. [electronic resource] by Smith, Joshua Kulkarni, Aditi Birkeland, Andrew C McHugh, Jonathan B Brenner, J Chad Producer: 20190923 In: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery vol. 159 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3777.	Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth. [electronic resource] by Huusko, Johanna M Karjalainen, Minna K Graham, Britney E Zhang, Ge Farrow, Emily G Miller, Neil A Jacobsson, Bo Eidem, Haley R Murray, Jeffrey C Bedell, Bruce Breheny, Patrick Brown, Noah W Bødker, Frans L Litterman, Nadia K Jiang, Pan-Pan Russell, Laura Hinds, David A Hu, Youna Rokas, Antonis Teramo, Kari Christensen, Kaare Williams, Scott M Rämet, Mika Kingsmore, Stephen F Ryckman, Kelli K Hallman, Mikko Muglia, Louis J Producer: 20190115 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3778.	Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans. [electronic resource] by Zhou, Yang Qin, Yan Qin, Yingying Xu, Binyang Guo, Ting Ke, Hanni Chen, Min Zhang, Lianjun Han, Feng Li, Yaqiong Chen, Min Behrens, Axel Wang, Yaqing Xu, Zhiheng Chen, Zi-Jiang Gao, Fei Producer: 20190115 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3779.	A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity. [electronic resource] by Ozdemir, Halis Plamondon, Jenna Gaskin, Peter Asoglu, Mehmet R Turan, Sifa Producer: 20210111 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3780.	Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening. [electronic resource] by Verbeeten, Kate C Lamhonwah, Anne-Marie Bulman, Dennis Faghfoury, Hanna Chakraborty, P Tein, Ingrid Geraghty, Michael T Producer: 20201123 In: Molecular genetics and metabolism vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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