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	2481.	Whole genome sequencing for the management of drug-resistant TB in low income high TB burden settings: Challenges and implications. [electronic resource] by Mahomed, Sharana Naidoo, Kogieleum Dookie, Navisha Padayatchi, Nesri Producer: 20180724 In: Tuberculosis (Edinburgh, Scotland) vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2482.	Systematic reconstruction of autism biology from massive genetic mutation profiles. [electronic resource] by Luo, Weijun Zhang, Chaolin Jiang, Yong-Hui Brouwer, Cory R Producer: 20190912 In: Science advances vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2483.	Whole exome sequencing of wild-derived inbred strains of mice improves power to link phenotype and genotype. [electronic resource] by Chang, Peter L Kopania, Emily Keeble, Sara Sarver, Brice A J Larson, Erica Orth, Annie Belkhir, Khalid Boursot, Pierre Bonhomme, François Good, Jeffrey M Dean, Matthew D Producer: 20181001 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2484.	Genetic and clonal dissection of osteosarcoma progression and lung metastasis. [electronic resource] by Xu, Huaiyuan Zhu, Xiaojun Bao, Hua Wh Shek, Tony Huang, Zongwen Wang, Yongqian Wu, Xue Wu, Yong Chang, Zhili Wu, Shuyu Tang, Qinglian Zhang, Huizhong Han, Anjia Mc Cheung, Kenneth Zou, Changye Yau, Raymond Ho, Wai-Yip Huang, Gang Batalha, Sellma Lu, Jinchang Song, Guohui Kang, Yao Shao, Yang W Lam, Ying Lee Shen, Jingnan Wang, Jin Producer: 20190114 In: International journal of cancer vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2485.	Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia. [electronic resource] by Alodayani, Abdulrahman N Al-Otaibi, Abdulnasir M Deswarte, Caroline Frayha, Husn Habib Bouaziz, Matthieu AlHelale, Maryam Le Voyer, Tom Nieto-Patlan, Alejandro Rattina, Vimel AlZahrani, Mofareh Halwani, Rabih Al Sohime, Fahad Al-Mousa, Hamoud Al-Muhsen, Saleh Alhajjar, Sami H Dhayhi, Nabil S Abel, Laurent Casanova, Jean-Laurent Bin-Hussain, Ibrahim AlBarrak, May S Al-Jumaah, Suliman A Bustamante, Jacinta Producer: 20190726 In: Journal of clinical immunology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2486.	Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy. [electronic resource] by Faqeih, E A Almannai, M Saleh, M M AlWadei, A H Samman, M M Alkuraya, F S Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2487.	XRCC2 mutation causes meiotic arrest, azoospermia and infertility. [electronic resource] by Yang, Yongjia Guo, Jihong Dai, Lei Zhu, Yimin Hu, Hao Tan, Lihong Chen, Weijian Liang, Desheng He, Jingliang Tu, Ming Wang, Kewei Wu, Lingqian Producer: 20191017 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2488.	Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. [electronic resource] by Alsultan, Abdulrahman Al-Suliman, Ahmed M Aleem, Aamer AlGahtani, Farjah H Alfadhel, Majid Producer: 20181231 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2489.	Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. [electronic resource] by Johnston, Josephine Lantos, John D Goldenberg, Aaron Chen, Flavia Parens, Erik Koenig, Barbara A Producer: 20190924 In: The Hastings Center report vol. 48 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2490.	Genomic alterations in gastric cancers discovered via whole-exome sequencing. [electronic resource] by Zhang, Jie Qiu, Weiqing Liu, Hua Qian, Changlin Liu, Dujuan Wang, Hailong Hu, Ni Tang, Y Tom Sun, Jianhua Shen, Zhiyong Producer: 20190327 In: BMC cancer vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2491.	The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1. [electronic resource] by Imhann, Floris Van der Velde, K J Barbieri, R Alberts, R Voskuil, M D Vich Vila, A Collij, V Spekhorst, L M Van der Sloot, K W J Peters, V Van Dullemen, H M Visschedijk, M C Festen, E A M Swertz, M A Dijkstra, G Weersma, R K Producer: 20190131 In: BMC gastroenterology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2492.	Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. [electronic resource] by Lipinski, Simone Petersen, Britt-Sabina Barann, Matthias Piecyk, Agnes Tran, Florian Mayr, Gabriele Jentzsch, Marlene Aden, Konrad Stengel, Stephanie T Klostermeier, Ulrich C Sheth, Vrunda Ellinghaus, David Rausch, Tobias Korbel, Jan O Nothnagel, Michael Krawczak, Michael Gilissen, Christian Veltman, Joris A Forster, Michael Forster, Peter Lee, Clarence C Fritscher-Ravens, Annette Schreiber, Stefan Franke, Andre Rosenstiel, Philip Producer: 20200330 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)
	2493.	A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. [electronic resource] by Kyöstilä, Kaisa Syrjä, Pernilla Lappalainen, Anu K Arumilli, Meharji Hundi, Sruthi Karkamo, Veera Viitmaa, Ranno Hytönen, Marjo K Lohi, Hannes Producer: 20200810 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2494.	Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. [electronic resource] by Bruels, Christine C Li, Chengcheng Mendoza, Tonatiuh Khan, Jamillah Reddy, Hemakumar M Estrella, Elicia A Ghosh, Partha S Darras, Basil T Lidov, Hart G W Pacak, Christina A Kunkel, Louis M Modave, François Draper, Isabelle Kang, Peter B Producer: 20190508 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2495.	Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. [electronic resource] by Gorvin, Caroline M Loh, Nellie Y Stechman, Michael J Falcone, Sara Hannan, Fadil M Ahmad, Bushra N Piret, Sian E Reed, Anita Ac Jeyabalan, Jeshmi Leo, Paul Marshall, Mhairi Sethi, Siddharth Bass, Paul Roberts, Ian Sanderson, Jeremy Wells, Sara Hough, Tertius A Bentley, Liz Christie, Paul T Simon, Michelle M Mallon, Ann-Marie Schulz, Herbert Cox, Roger D Brown, Matthew A Huebner, Norbert Brown, Steve D Thakker, Rajesh V Producer: 20200813 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2496.	PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. [electronic resource] by Shaheen, Ranad Tasak, Monika Maddirevula, Sateesh Abdel-Salam, Ghada M H Sayed, Inas S M Alazami, Anas M Al-Sheddi, Tarfa Alobeid, Eman Phizicky, Eric M Alkuraya, Fowzan S Producer: 20190325 In: Human genetics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2497.	PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. [electronic resource] by Õunap, Katrin Muru, Kai Õiglane-Shlik, Eve Ilves, Pilvi Pajusalu, Sander Kuus, Imbi Wojcik, Monica H Reimand, Tiia Producer: 20201019 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)
	2498.	Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. [electronic resource] by Polla, Daniel L Rahikkala, Elisa Bode, Michaela K Määttä, Tuomo Varilo, Teppo Loman, Thyrza Philips, Anju K Kurki, Mitja Palotie, Aarno Körkkö, Jarmo Vieira, Päivi Avela, Kristiina Jacquemin, Valérie Pirson, Isabelle Abramowicz, Marc de Brouwer, Arjan P M Kuismin, Outi van Bokhoven, Hans Järvelä, Irma Producer: 20200615 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2499.	New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach. [electronic resource] by Alkelai, Anna Greenbaum, Lior Heinzen, Erin L Baugh, Evan H Teitelbaum, Alexander Zhu, Xiaolin Strous, Rael D Tatarskyy, Pavel Zai, Clement C Tiwari, Arun K Tampakeras, Maria Freeman, Natalie Müller, Daniel J Voineskos, Aristotle N Lieberman, Jeffrey A Delaney, Shannon L Meltzer, Herbert Y Remington, Gary Kennedy, James L Pulver, Ann E Peabody, Emma P Levy, Deborah L Lerer, Bernard Producer: 20200330 In: Progress in neuro-psychopharmacology & biological psychiatry vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2500.	ALG12-CDG: novel glycophenotype insights endorse the molecular defect. [electronic resource] by Sturiale, Luisa Bianca, Sebastiano Garozzo, Domenico Terracciano, Alessandra Agolini, Emanuele Messina, Angela Palmigiano, Angelo Esposito, Francesca Barone, Chiara Novelli, Antonio Fiumara, Agata Jaeken, Jaak Barone, Rita Producer: 20200515 In: Glycoconjugate journal vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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