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	2781.	Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. [electronic resource] by Knapp, Karen M Luu, Rebecca Baerenfaenger, Melissa Zijlstra, Fokje Wessels, Hans J C T Jenkins, Danielle Lefeber, Dirk J Neas, Katherine Bicknell, Louise S Producer: 20210208 In: Journal of human genetics vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2782.	Genome-Wide Identification and Characterization of Drought Stress Responsive microRNAs in Tibetan Wild Barley. [electronic resource] by Qiu, Cheng-Wei Liu, Li Feng, Xue Hao, Peng-Fei He, Xiaoyan Cao, Fangbin Wu, Feibo Producer: 20210118 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2783.	Analysis of Circulating Cell-Free DNA Identifies Multiclonal Heterogeneity of [electronic resource] by Quigley, David Alumkal, Joshi J Wyatt, Alexander W Kothari, Vishal Foye, Adam Lloyd, Paul Aggarwal, Rahul Kim, Won Lu, Eric Schwartzman, Jacob Beja, Kevin Annala, Matti Das, Rajdeep Diolaiti, Morgan Pritchard, Colin Thomas, George Tomlins, Scott Knudsen, Karen Lord, Christopher J Ryan, Charles Youngren, Jack Beer, Tomasz M Ashworth, Alan Small, Eric J Feng, Felix Y Producer: 20180629 In: Cancer discovery vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2784.	Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma. [electronic resource] by Sneddon, Sophie Patch, Ann-Marie Dick, Ian M Kazakoff, Stephen Pearson, John V Waddell, Nicola Allcock, Richard J N Holt, Robert A Robinson, Bruce W S Creaney, Jenette Producer: 20180309 In: BMC cancer vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2785.	Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. [electronic resource] by Helbig, Katherine L Farwell Hagman, Kelly D Shinde, Deepali N Mroske, Cameron Powis, Zöe Li, Shuwei Tang, Sha Helbig, Ingo Producer: 20171211 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2786.	Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. [electronic resource] by Niceta, M Margiotti, K Digilio, M C Guida, V Bruselles, A Pizzi, S Ferraris, A Memo, L Laforgia, N Dentici, M L Consoli, F Torrente, I Ruiz-Perez, V L Dallapiccola, B Marino, B De Luca, A Tartaglia, M Producer: 20190911 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2787.	Intrafamilial variability of XYLT2-related spondyloocular syndrome. [electronic resource] by Guleray, Naz Simsek Kiper, Pelin Ozlem Utine, Gulen Eda Boduroglu, Koray Alikasifoglu, Mehmet Producer: 20200206 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2788.	Multifocal Primary Prostate Cancer Exhibits High Degree of Genomic Heterogeneity. [electronic resource] by Løvf, Marthe Zhao, Sen Axcrona, Ulrika Johannessen, Bjarne Bakken, Anne Cathrine Carm, Kristina Totland Hoff, Andreas M Myklebost, Ola Meza-Zepeda, Leonardo A Lie, A Kathrine Axcrona, Karol Lothe, Ragnhild A Skotheim, Rolf I Producer: 20190722 In: European urology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2789.	MHC Class II Deficiency with Normal CD4+ T Cell Counts: A Case Report. [electronic resource] by Abolnezhadian, Farhad Saeedi-Boroujeni, Ali Iranparast, Sara Producer: 20190912 In: Iranian journal of allergy, asthma, and immunology vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	2790.	Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. [electronic resource] by Chen, Zhongzhong Lei, Yunping Zheng, Yufang Aguiar-Pulido, Vanessa Ross, M Elizabeth Peng, Rui Jin, Li Zhang, Ting Finnell, Richard H Wang, Hongyan Producer: 20190905 In: Cell research vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2791.	Constitutively active androgen receptor splice variants AR-V3, AR-V7 and AR-V9 are co-expressed in castration-resistant prostate cancer metastases. [electronic resource] by Kallio, Heini M L Hieta, Reija Latonen, Leena Brofeldt, Anniina Annala, Matti Kivinummi, Kati Tammela, Teuvo L Nykter, Matti Isaacs, William B Lilja, Hans G Bova, G Steven Visakorpi, Tapio Producer: 20190821 In: British journal of cancer vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2792.	Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. [electronic resource] by Zhang, Dan Liu, Yifeng Zhang, Zhou Lv, Pingping Liu, Yun Li, Jingyi Wu, Yiqing Zhang, Runjv Huang, Yun Xu, Gufeng Qian, Yeqing Qian, Yuli Chen, Songchang Xu, Chenming Shen, Jun Zhu, Linling Chen, Kai Zhu, Bo Ye, Xiaoqun Mao, Yuchan Bo, Xingsheng Zhou, Caiyun Wang, Tingting Chen, Dianfu Yang, Weijun Tan, Yajing Song, Yang Zhou, Daizhan Sheng, Jianzhong Gao, Huijuan Zhu, Yimin Li, Meigen Wu, Liping He, Lin Huang, Hefeng Producer: 20190422 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2793.	Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report. [electronic resource] by Li, Xianghong Li, Liangshan Sun, Yaqi Lv, Fuyan Zhang, Guoqing Liu, Wenmiao Zhang, Meiyan Jiang, Hong Liu, Shiguo 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)
	2794.	Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL. [electronic resource] by Chen, Xiangyu Deng, Sheng Xu, Hongbo Hou, Deren Hu, Pengzhi Yang, Yan Wen, Jie Deng, Hao Yuan, Lamei Producer: 20200824 In: Neuro-degenerative diseases vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2795.	Computational KIR copy number discovery reveals interaction between inhibitory receptor burden and survival. [electronic resource] by Pyke, Rachel M Genolet, Raphael Harari, Alexandre Coukos, George Gfeller, David Carter, Hannah Producer: 20190823 In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	2796.	Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. [electronic resource] by Shaheen, Ranad Alsahli, Saud Ewida, Nour Alzahrani, Fatema Shamseldin, Hanan E Patel, Nisha Al Qahtani, Awad Alhebbi, Homoud Alhashem, Amal Al-Sheddi, Tarfa Alomar, Rana Alobeid, Eman Abouelhoda, Mohamed Monies, Dorota Al-Hussaini, Abdulrahman Alzouman, Muneerah A Shagrani, Mohammad Faqeih, Eissa Alkuraya, Fowzan S Producer: 20210428 In: Hepatology (Baltimore, Md.) vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2797.	Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer. [electronic resource] by Hellmann, Matthew D Nathanson, Tavi Rizvi, Hira Creelan, Benjamin C Sanchez-Vega, Francisco Ahuja, Arun Ni, Ai Novik, Jacki B Mangarin, Levi M B Abu-Akeel, Mohsen Liu, Cailian Sauter, Jennifer L Rekhtman, Natasha Chang, Eliza Callahan, Margaret K Chaft, Jamie E Voss, Martin H Tenet, Megan Li, Xue-Mei Covello, Kelly Renninger, Andrea Vitazka, Patrik Geese, William J Borghaei, Hossein Rudin, Charles M Antonia, Scott J Swanton, Charles Hammerbacher, Jeff Merghoub, Taha McGranahan, Nicholas Snyder, Alexandra Wolchok, Jedd D Producer: 20190227 In: Cancer cell vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2798.	Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [electronic resource] by Pena, Loren D M Jiang, Yong-Hui Schoch, Kelly Spillmann, Rebecca C Walley, Nicole Stong, Nicholas Rapisardo Horn, Sarah Sullivan, Jennifer A McConkie-Rosell, Allyn Kansagra, Sujay Smith, Edward C El-Dairi, Mays Bellet, Jane Keels, Martha Ann Jasien, Joan Kranz, Peter G Noel, Richard Nagaraj, Shashi K Lark, Robert K Wechsler, Daniel S G Del Gaudio, Daniela Leung, Marco L Hendon, Laura G Parker, Collette C Jones, Kelly L Goldstein, David B Shashi, Vandana 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)
	2799.	Genomic [electronic resource] by Li, Maolan Liu, Fatao Zhang, Fei Zhou, Weiping Jiang, Xiaoqing Yang, Yuan Qu, Kai Wang, Yueqi Ma, Qiang Wang, Ting Bai, Lu Wang, Zheng Song, Xiaoling Zhu, Yidi Yuan, Ruiyan Gao, Yuan Liu, Yongchen Jin, Yunpeng Li, Huaifeng Xiang, Shanshan Ye, Yuanyuan Zhang, Yijian Jiang, Lin Hu, Yunping Hao, Yajuan Lu, Wei Chen, Shili Gu, Jun Zhou, Jian Gong, Wei Zhang, Yong Wang, Xuefeng Liu, Xiyong Liu, Chang Liu, Houbao Liu, Yun Liu, Yingbin Producer: 20190625 In: Gut vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2800.	A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. [electronic resource] by Zhu, Xiaolin Padmanabhan, Raghavendra Copeland, Brett Bridgers, Joshua Ren, Zhong Kamalakaran, Sitharthan O'Driscoll-Collins, Ailbhe Berkovic, Samuel F Scheffer, Ingrid E Poduri, Annapurna Mei, Davide Guerrini, Renzo Lowenstein, Daniel H Allen, Andrew S Heinzen, Erin L Goldstein, David B Producer: 20171218 In: PLoS genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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