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	2221.	Mutational profiles of breast cancer metastases from a rapid autopsy series reveal multiple evolutionary trajectories. [electronic resource] by Avigdor, Bracha Erlanger Cimino-Mathews, Ashley DeMarzo, Angelo M Hicks, Jessica L Shin, James Sukumar, Saraswati Fetting, John Argani, Pedram Park, Ben H Wheelan, Sarah J Producer: 20190708 In: JCI insight vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2222.	Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing. [electronic resource] by Nahar, Rahul Zhai, Weiwei Zhang, Tong Takano, Angela Khng, Alexis J Lee, Yin Yeng Liu, Xingliang Lim, Chong Hee Koh, Tina P T Aung, Zaw Win Lim, Tony Kiat Hon Veeravalli, Lavanya Yuan, Ju Teo, Audrey S M Chan, Cheryl X Poh, Huay Mei Chua, Ivan M L Liew, Audrey Ann Lau, Dawn Ping Xi Kwang, Xue Lin Toh, Chee Keong Lim, Wan-Teck Lim, Bing Tam, Wai Leong Tan, Eng-Huat Hillmer, Axel M Tan, Daniel S W Producer: 20180305 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2223.	Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report. [electronic resource] by Choi, Hye Ji Lee, Joon Suk Yu, Seyoung Cha, Do Hyeon Gee, Heon Yung Choi, Jae Young Lee, Jong Dae Jung, Jinsei Producer: 20171229 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2224.	Molecular autopsy in maternal-fetal medicine. [electronic resource] by Shamseldin, Hanan E Kurdi, Wesam Almusafri, Fatima Alnemer, Maha Alkaff, Alya Babay, Zeneb Alhashem, Amal Tulbah, Maha Alsahan, Nada Khan, Rubina Sallout, Bahauddin Al Mardawi, Elham Seidahmed, Mohamed Zain Meriki, Niema Alsaber, Yasser Qari, Alya Khalifa, Ola Eyaid, Wafaa Rahbeeni, Zuhair Kurdi, Ahmed Hashem, Mais Alshidi, Tarfa Al-Obeid, Eman Abdulwahab, Firdous Ibrahim, Niema Ewida, Nour El-Akouri, Karen Al Mulla, Mariam Ben-Omran, Tawfeg Pergande, Matthias Cirak, Sebahattin Al Tala, Saeed Shaheen, Ranad Faqeih, Eissa Alkuraya, Fowzan S 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)
	2225.	Gene Copy Number Estimation from Targeted Next-Generation Sequencing of Prostate Cancer Biopsies: Analytic Validation and Clinical Qualification. [electronic resource] by Seed, George Yuan, Wei Mateo, Joaquin Carreira, Suzanne Bertan, Claudia Lambros, Maryou Boysen, Gunther Ferraldeschi, Roberta Miranda, Susana Figueiredo, Ines Riisnaes, Ruth Crespo, Mateus Rodrigues, Daniel Nava Talevich, Eric Robinson, Dan R Kunju, Lakshmi P Wu, Yi-Mi Lonigro, Robert Sandhu, Shahneen Chinnaiyan, Arul M de Bono, Johann S Producer: 20180523 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)
	2226.	High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. [electronic resource] by Stosser, Mary Beth Lindy, Amanda S Butler, Elizabeth Retterer, Kyle Piccirillo-Stosser, Caitlin M Richard, Gabriele McKnight, Dianalee A 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)
	2227.	An examination of multiple classes of rare variants in extended families with bipolar disorder. [electronic resource] by Toma, Claudio Shaw, Alex D Allcock, Richard J N Heath, Anna Pierce, Kerrie D Mitchell, Philip B Schofield, Peter R Fullerton, Janice M Producer: 20181212 In: Translational psychiatry vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2228.	Toxicity and Transcriptome Sequencing (RNA-seq) Analyses of Adult Zebrafish in Response to Exposure Carboxymethyl Cellulose Stabilized Iron Sulfide Nanoparticles. [electronic resource] by Zheng, Min Lu, Jianguo Zhao, Dongye Producer: 20191023 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2229.	Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease. [electronic resource] by Wattacheril, Julia Shea, Patrick R Mohammad, Saeed Behling, Cynthia Aggarwal, Vimla Wilson, Laura A Yates, Katherine P Ito, Joy Fishbein, Mark Stong, Nicholas Lavine, Joel E Goldstein, David B Producer: 20190731 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2230.	Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing. [electronic resource] by Simonsen, Anita T Hansen, Marcus C Kjeldsen, Eigil Møller, Peter L Hindkjær, Johnny J Hokland, Peter Aggerholm, Anni Producer: 20181126 In: BMC genomics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2231.	Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy. [electronic resource] by Brodehl, Andreas Rezazadeh, Saman Williams, Tatjana Munsie, Nicole M Liedtke, Daniel Oh, Tracey Ferrier, Raechel Shen, Yaoqing Jones, Steven J M Stiegler, Amy L Boggon, Titus J Duff, Henry J Friedman, Jan M Gibson, William T Childs, Sarah J Gerull, Brenda Producer: 20190813 In: Translational research : the journal of laboratory and clinical medicine vol. 208 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2232.	A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. [electronic resource] by Lee, Byeonghyeon Choi, Deok-Gyun Chun, Bo Young Oh, Eun Hye Lee, Yun-Jeong Kim, Un-Kyung Park, Jin-Sung Producer: 20190610 In: Gene vol. 705 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2233.	Angioedema-Induced by Nonsteroidal Anti-inflammatory Drugs: A Genotype-Phenotype Correlation in A Brazilian Population. [electronic resource] by Ensina, L F Martin, R P Filippelli-Silva, R Veronez, C L Sole, D Pesquero, J B Producer: 20200128 In: Journal of investigational allergology & clinical immunology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2234.	Genomic Evolutionary Patterns of Leiomyosarcoma and Liposarcoma. [electronic resource] by Amin-Mansour, Ali George, Suzanne Sioletic, Stefano Carter, Scott L Rosenberg, Mara Taylor-Weiner, Amaro Stewart, Chip Chevalier, Aaron Seepo, Sara Tracy, Adam Getz, Gad Hornick, Jason L Nucci, Marisa R Quade, Bradley Demetri, George D Raut, Chandrajit P Garraway, Levi A Van Allen, Eliezer M Wagner, Andrew J Producer: 20200819 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)
	2235.	De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. [electronic resource] by Mirzaa, Ghayda M Chong, Jessica X Piton, Amélie Popp, Bernt Foss, Kimberly Guo, Hui Harripaul, Ricardo Xia, Kun Scheck, Joshua Aldinger, Kimberly A Sajan, Samin A Tang, Sha Bonneau, Dominique Beck, Anita White, Janson Mahida, Sonal Harris, Jacqueline Smith-Hicks, Constance Hoyer, Juliane Zweier, Christiane Reis, André Thiel, Christian T Jamra, Rami Abou Zeid, Natasha Yang, Amy Farach, Laura S Walsh, Laurence Payne, Katelyn Rohena, Luis Velinov, Milen Ziegler, Alban Schaefer, Elise Gatinois, Vincent Geneviève, David Simon, Marleen E H Kohler, Jennefer Rotenberg, Joshua Wheeler, Patricia Larson, Austin Ernst, Michelle E Akman, Cigdem I Westman, Rachel Blanchet, Patricia Schillaci, Lori-Anne Vincent-Delorme, Catherine Gripp, Karen W Mattioli, Francesca Guyader, Gwenaël Le Gerard, Bénédicte Mathieu-Dramard, Michèle Morin, Gilles Sasanfar, Roksana Ayub, Muhammad Vasli, Nasim Yang, Sandra Person, Rick Monaghan, Kristin G Nickerson, Deborah A van Binsbergen, Ellen Enns, Gregory M Dries, Annika M Rowe, Leah J Tsai, Anne C H Svihovec, Shayna Friedman, Jennifer Agha, Zehra Qamar, Raheel Rodan, Lance H Martinez-Agosto, Julian Ockeloen, Charlotte W Vincent, Marie Sunderland, William James Bernstein, Jonathan A Eichler, Evan E Vincent, John B Bamshad, Michael J Producer: 20210203 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)
	2236.	Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. [electronic resource] by Goldstein, Orly Kedmi, Merav Gana-Weisz, Mali Twito, Shir Nefussy, Beatrice Vainer, Batel Fainmesser, Yaara Abraham, Alon Nayshool, Omri Orr-Urtreger, Avi Drory, Vivian E Producer: 20200817 In: Journal of the neurological sciences vol. 402 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2237.	A resource-efficient tool for mixed model association analysis of large-scale data. [electronic resource] by Jiang, Longda Zheng, Zhili Qi, Ting Kemper, Kathryn E Wray, Naomi R Visscher, Peter M Yang, Jian Producer: 20200117 In: Nature genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2238.	Mutational and transcriptomic landscapes of a rare human prostate basal cell carcinoma. [electronic resource] by Su, Xianbin Long, Qi Bo, Juanjie Shi, Yi Zhao, Li-Nan Lin, Yingxin Luo, Qing Ghazanfar, Shila Zhang, Chao Liu, Qiang Wang, Lan He, Kunyan He, Jian Cui, Xiaofang Yang, Jean Y H Han, Ze-Guang Yang, Guoliang Sha, Jian-Jun Producer: 20200715 In: The Prostate vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2239.	LMNB1 mutation causes cerebellar involvement and a genome instability defect. [electronic resource] by Pedroso, José Luiz Munford, Veridiana Bastos, André Uchimura Castro, Ligia Pereira de Marussi, Victor Hugo Rocha Silva, Gisele Sampaio Arita, Juliana Harumi Menck, Carlos F M Barsottini, Orlando G Producer: 20190417 In: Journal of the neurological sciences vol. 379 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2240.	Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation. [electronic resource] by Brett, Maggie Lai, Angeline H M Ting, Teck-Wah Tan, Ah-Moy Foo, Roger Jamuar, Saumya Tan, Ene-Choo Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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