Your search returned 4080 results.

Results
	3341.	Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 ( [electronic resource] by Marinelli, Lisa Ristagno, Elizabeth Fischer, Philip Abraham, Roshini Joshi, Avni Producer: 20201221 In: BMJ case reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3342.	Proliferation Markers Are Associated with MET Expression in Hepatocellular Carcinoma and Predict Tivantinib Sensitivity [electronic resource] by Rebouissou, Sandra La Bella, Tiziana Rekik, Samia Imbeaud, Sandrine Calatayud, Anna-Line Rohr-Udilova, Nataliya Martin, Yoann Couchy, Gabrielle Bioulac-Sage, Paulette Grasl-Kraupp, Bettina de Koning, Leanne Ganne-Carrié, Nathalie Nault, Jean-Charles Ziol, Marianne Zucman-Rossi, Jessica Producer: 20180619 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3343.	A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. [electronic resource] by Chen, Dong-Ye Liu, Xing-Feng Lin, Xiao-Jiang Zhang, Dan Chai, Yong-Chuan Yu, De-Hong Sun, Chang-Ling Wang, Xue-Ling Zhu, Wei-Dong Chen, Ying Sun, Lian-Hua Wang, Xiao-Wen Shi, Fu-Xin Huang, Zhi-Wu Yang, Tao Wu, Hao 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)
	3344.	Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. [electronic resource] by Suspitsin, Evgeny N Yanus, Grigoriy A Dorofeeva, Marina Yu Ledashcheva, Tatiana A Nikitina, Nataliya V Buyanova, Galina V Saifullina, Elena V Sokolenko, Anna P Imyanitov, Evgeny N Producer: 20180918 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3345.	Prevalence and Prognostic Role of PIK3CA/AKT1 Mutations in Chinese Breast Cancer Patients. [electronic resource] by Deng, Ling Zhu, Xuehua Sun, Yun Wang, Jiemin Zhong, Xiaorong Li, Jiayuan Hu, Min Zheng, Hong Producer: 20190419 In: Cancer research and treatment vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3346.	A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease. [electronic resource] by Abul-Husn, Noura S Cheng, Xiping Li, Alexander H Xin, Yurong Schurmann, Claudia Stevis, Panayiotis Liu, Yashu Kozlitina, Julia Stender, Stefan Wood, G Craig Stepanchick, Ann N Still, Matthew D McCarthy, Shane O'Dushlaine, Colm Packer, Jonathan S Balasubramanian, Suganthi Gosalia, Nehal Esopi, David Kim, Sun Y Mukherjee, Semanti Lopez, Alexander E Fuller, Erin D Penn, John Chu, Xin Luo, Jonathan Z Mirshahi, Uyenlinh L Carey, David J Still, Christopher D Feldman, Michael D Small, Aeron Damrauer, Scott M Rader, Daniel J Zambrowicz, Brian Olson, William Murphy, Andrew J Borecki, Ingrid B Shuldiner, Alan R Reid, Jeffrey G Overton, John D Yancopoulos, George D Hobbs, Helen H Cohen, Jonathan C Gottesman, Omri Teslovich, Tanya M Baras, Aris Mirshahi, Tooraj Gromada, Jesper Dewey, Frederick E Producer: 20180403 In: The New England journal of medicine vol. 378 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3347.	Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. [electronic resource] by Giannelou, Angeliki Wang, Hongying Zhou, Qing Park, Yong Hwan Abu-Asab, Mones S Ylaya, Kris Stone, Deborah L Sediva, Anna Sleiman, Rola Sramkova, Lucie Bhatla, Deepika Serti, Elisavet Tsai, Wanxia Li Yang, Dan Bishop, Kevin Carrington, Blake Pei, Wuhong Deuitch, Natalie Brooks, Stephen Edwan, Jehad H Joshi, Sarita Prader, Seraina Kaiser, Daniela Owen, William C Sonbul, Abdullah Al Zhang, Yu Niemela, Julie E Burgess, Shawn M Boehm, Manfred Rehermann, Barbara Chae, JaeJin Quezado, Martha M Ombrello, Amanda K Buckley, Rebecca H Grom, Alexi A Remmers, Elaine F Pachlopnik, Jana M Su, Helen C Gutierrez-Cruz, Gustavo Hewitt, Stephen M Sood, Raman Risma, Kimberly Calvo, Katherine R Rosenzweig, Sergio D Gadina, Massimo Hafner, Markus Sun, Hong-Wei Kastner, Daniel L Aksentijevich, Ivona Producer: 20190122 In: Annals of the rheumatic diseases vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3348.	PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia. [electronic resource] by Chase, Andrew Pellagatti, Andrea Singh, Shalini Score, Joannah Tapper, William J Lin, Feng Hoade, Yvette Bryant, Catherine Trim, Nicola Yip, Bon Ham Zoi, Katerina Rasi, Chiara Forsberg, Lars A Dumanski, Jan P Boultwood, Jacqueline Cross, Nicholas C P Producer: 20190813 In: Leukemia vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3349.	MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. [electronic resource] by Oury, Julien Liu, Yun Töpf, Ana Todorovic, Slobodanka Hoedt, Esthelle Preethish-Kumar, Veeramani Neubert, Thomas A Lin, Weichun Lochmüller, Hanns Burden, Steven J Producer: 20200410 In: The Journal of cell biology vol. 218 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3350.	RNA-seq-based selection of reference genes for RT-qPCR analysis of pitaya. [electronic resource] by Nong, Quandong Yang, Yongchao Zhang, Mingyong Zhang, Mei Chen, Jiantong Jian, Shuguang Lu, Hongfang Xia, Kuaifei Producer: 20200309 In: FEBS open bio vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3351.	Genomic characterization of a well-differentiated grade 3 pancreatic neuroendocrine tumor. [electronic resource] by Williamson, Laura M Steel, Michael Grewal, Jasleen K Thibodeau, My Lihn Zhao, Eric Y Loree, Jonathan M Yang, Kevin C Gorski, Sharon M Mungall, Andrew J Mungall, Karen L Moore, Richard A Marra, Marco A Laskin, Janessa Renouf, Daniel J Schaeffer, David F Jones, Steven J M Producer: 20200526 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3352.	A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing. [electronic resource] by Zhang, Lusi Peng, Yingqian Ouyang, Pingbo Liang, Youling Zeng, Huilan Wang, Nuo Duan, Xuanchu Shi, Jingming Producer: 20190930 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3353.	Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond. [electronic resource] by de Valles-Ibáñez, Guillem Esteve-Solé, Ana Piquer, Mònica González-Navarro, E Azucena Hernandez-Rodriguez, Jessica Laayouni, Hafid González-Roca, Eva Plaza-Martin, Ana María Deyà-Martínez, Ángela Martín-Nalda, Andrea Martínez-Gallo, Mónica García-Prat, Marina Del Pino-Molina, Lucía Cuscó, Ivón Codina-Solà, Marta Batlle-Masó, Laura Solís-Moruno, Manuel Marquès-Bonet, Tomàs Bosch, Elena López-Granados, Eduardo Aróstegui, Juan Ignacio Soler-Palacín, Pere Colobran, Roger Yagüe, Jordi Alsina, Laia Juan, Manel Casals, Ferran Producer: 20190625 In: Frontiers in immunology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3354.	Point-of-care whole-exome sequencing of idiopathic male infertility. [electronic resource] by Fakhro, Khalid A Elbardisi, Haitham Arafa, Mohamed Robay, Amal Rodriguez-Flores, Juan L Al-Shakaki, Alya Syed, Najeeb Mezey, Jason G Abi Khalil, Charbel Malek, Joel A Al-Ansari, Abdulla Al Said, Sami Crystal, Ronald G Producer: 20190213 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)
	3355.	Identification and characterization of SEC24D as a susceptibility gene for hepatitis B virus infection. [electronic resource] by Jiang, Xianzhong Zhang, Bin Zhao, Junsheng Xu, Yi Han, Haijun Su, Kunkai Tao, Jingjing Fan, Rongli Zhao, Xinyi Li, Lanjuan Li, Ming D Producer: 20201204 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3356.	A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes. [electronic resource] by Park, Joseph Levin, Michael G Haggerty, Christopher M Hartzel, Dustin N Judy, Renae Kember, Rachel L Reza, Nosheen Ritchie, Marylyn D Owens, Anjali T Damrauer, Scott M Rader, Daniel J Producer: 20200608 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3357.	First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. [electronic resource] by Gupta, Neerja Yadav, Sakshi Gurramkonda, Venkatesh Babu Vl, Ramprasad Sg, Thenral Kabra, Madhulika Producer: 20201119 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3358.	Mutations in ASH1L confer susceptibility to Tourette syndrome. [electronic resource] by Liu, Shiguo Tian, Miaomiao He, Fan Li, Jiani Xie, Hong Liu, Wenmiao Zhang, Yeting Zhang, Ru Yi, Mingji Che, Fengyuan Ma, Xu Zheng, Yi Deng, Hao Wang, Guiju Chen, Lang Sun, Xue Xu, Yinglei Wang, Jingli Zang, Yucui Han, Mengmeng Wang, Xiuhai Guan, Hongzai Ge, Yinlin Wu, Chunmei Wang, Haiyan Liang, Hui Li, Hui Ran, Ni Yang, Zhaochuan Huang, Huanhuan Wei, Yanzhao Zheng, Xueping Sun, Xiangrong Feng, Xueying Zheng, Lanlan Zhu, Tao Luo, Wenhan Chen, Qinan Yan, Yuze Huang, Zuzhou Jing, Zhongcui Guo, Yixia Zhang, Xuzhan Schaaf, Christian P Xing, Jinchuan Wang, Chuanyue Yu, Fuli Guan, Ji-Song Producer: 20201207 In: Molecular psychiatry vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3359.	Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. [electronic resource] by Heimer, Gali van Woerden, Geeske M Barel, Ortal Marek-Yagel, Dina Kol, Nitzan Munting, Johannes B Borghei, Minoeshka Atawneh, Osama M Nissenkorn, Andreea Rechavi, Gideon Anikster, Yair Elgersma, Ype Kushner, Steven A Ben Zeev, Bruria Producer: 20210722 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3360.	HPV33+ HNSCC is associated with poor prognosis and has unique genomic and immunologic landscapes. [electronic resource] by Chatfield-Reed, Kate Gui, Shanying O'Neill, Wendi Q Teknos, Theodoros N Pan, Quintin Producer: 20201015 In: Oral oncology vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 4080 results.