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	2381.	Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. [electronic resource] by Zou, Songfeng Mei, Xueshuang Yang, Weiqiang Zhu, Rvfei Yang, Tao Hu, Hongyi Producer: 20210205 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2382.	ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. [electronic resource] by Li, Dong March, Michael E Gutierrez-Uzquiza, Alvaro Kao, Charlly Seiler, Christoph Pinto, Erin Matsuoka, Leticia S Battig, Mark R Bhoj, Elizabeth J Wenger, Tara L Tian, Lifeng Robinson, Nora Wang, Tiancheng Liu, Yichuan Weinstein, Brant M Swift, Matthew Jung, Hyun Min Kaminski, Courtney N Chiavacci, Rosetta Perkins, Jonathan A Levine, Michael A Sleiman, Patrick M A Hicks, Patricia J Strausbaugh, Janet T Belasco, Jean B Dori, Yoav Hakonarson, Hakon Producer: 20191114 In: Nature medicine vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2383.	Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater! [electronic resource] by Adam, Shelin Friedman, Jan M Producer: 20171213 In: Journal of clinical epidemiology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2384.	Impaired plasticity of macrophages in X-linked adrenoleukodystrophy. [electronic resource] by Weinhofer, Isabelle Zierfuss, Bettina Hametner, Simon Wagner, Magdalena Popitsch, Niko Machacek, Christian Bartolini, Barbara Zlabinger, Gerhard Ohradanova-Repic, Anna Stockinger, Hannes Köhler, Wolfgang Höftberger, Romana Regelsberger, Günther Forss-Petter, Sonja Lassmann, Hans Berger, Johannes Producer: 20190715 In: Brain : a journal of neurology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2385.	[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability]. [electronic resource] by Tang, Shaohua Jia, Manli Chen, Chong Li, Huanzheng Hu, Lin Luan, Zhaotang Xu, Xueqin Lyu, Jianxin Producer: 20181219 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2386.	Peptide ion channel toxins from the bootlace worm, the longest animal on Earth. [electronic resource] by Jacobsson, Erik Andersson, Håkan S Strand, Malin Peigneur, Steve Eriksson, Camilla Lodén, Henrik Shariatgorji, Mohammadreza Andrén, Per E Lebbe, Eline K M Rosengren, K Johan Tytgat, Jan Göransson, Ulf Producer: 20191021 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2387.	Inframe deletion of human [electronic resource] by Ahmed, Zubair M Jaworek, Thomas J Sarangdhar, Gowri N Zheng, Lili Gul, Khitab Khan, Shaheen N Friedman, Thomas B Sisk, Robert A Bartles, James R Riazuddin, Sheikh Riazuddin, Saima Producer: 20191004 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)
	2388.	Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism. [electronic resource] by Cunha, Marisa L R Meijers, Joost C M Rosendaal, Frits R Vlieg, Astrid van Hylckama Reitsma, Pieter H Middeldorp, Saskia Producer: 20171121 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2389.	Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. [electronic resource] by Chiu, A T G Pei, S L C Mak, C C Y Leung, G K C Yu, M H C Lee, S L Vreeburg, M Pfundt, R van der Burgt, I Kleefstra, T Frederic, T M-T Nambot, S Faivre, L Bruel, A-L Rossi, M Isidor, B Küry, S Cogne, B Besnard, T Willems, M Reijnders, M R F Chung, B H Y Producer: 20190930 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2390.	Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children. [electronic resource] by Fang, Xiaoliang He, Lei Xu, Guofeng Lin, Houwei Xu, Maosheng Geng, Hongquan Producer: 20200731 In: Pediatric nephrology (Berlin, Germany) vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2391.	Genome-wide mining seed-specific candidate genes from peanut for promoter cloning. [electronic resource] by Yuan, Cuiling Sun, Quanxi Kong, Yingzhen Producer: 20191212 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2392.	The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements. [electronic resource] by Suurmeijer, Albert J Dickson, Brendan C Swanson, David Zhang, Lei Sung, Yun-Shao Huang, Hsuan-Ying Fletcher, Christopher D Antonescu, Cristina R Producer: 20200214 In: Genes, chromosomes & cancer vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2393.	Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy. [electronic resource] by Dimopoulou, Chrysoula Lundgren, Jens D Sundal, Jon Ullum, Henrik Aukrust, Pål Nielsen, Finn C Marvig, Rasmus L Producer: 20201009 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)
	2394.	Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. [electronic resource] by Chen, Chun-An Pal, Rituraj Yin, Jiani Tao, Huifang Amawi, Abdallah Sabo, Aniko Bainbridge, Matthew N Gibbs, Richard A Zoghbi, Huda Y Schaaf, Christian P Producer: 20210603 In: Human molecular genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2395.	Analysis of gene variants in the GASH/Sal model of epilepsy. [electronic resource] by Díaz-Casado, Elena Gómez-Nieto, Ricardo de Pereda, José M Muñoz, Luis J Jara-Acevedo, María López, Dolores E Producer: 20200617 In: PloS one vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2396.	A Zipf-plot based normalization method for high-throughput RNA-seq data. [electronic resource] by Wang, Bin Producer: 20200721 In: PloS one vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2397.	Establishment and characterization of 18 human colorectal cancer cell lines. [electronic resource] by Kim, Soon-Chan Kim, Hyun-Soo Kim, Jae Hyeon Jeong, Nahyun Shin, Young-Kyoung Kim, Min Jung Park, Ji Won Jeong, Seung-Yong Ku, Ja-Lok Producer: 20201130 In: Scientific reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2398.	Landscape of Genomic Alterations in Pituitary Adenomas. [electronic resource] by Bi, Wenya Linda Horowitz, Peleg Greenwald, Noah F Abedalthagafi, Malak Agarwalla, Pankaj K Gibson, Wiliam J Mei, Yu Schumacher, Steven E Ben-David, Uri Chevalier, Aaron Carter, Scott Tiao, Grace Brastianos, Priscilla K Ligon, Azra H Ducar, Matthew MacConaill, Laura Laws, Edward R Santagata, Sandro Beroukhim, Rameen Dunn, Ian F Producer: 20180207 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)
	2399.	Hydronephrosis with ureteritis developed in C57BL/6N mice carrying the congenic region derived from MRL/MpJ-type chromosome 11. [electronic resource] by Ichii, Osamu Chihara, Masataka Lee, Shin-Hyo Nakamura, Teppei Otsuka-Kanazawa, Saori Horino, Taro Elewa, Yaser Hosny Ali Kon, Yasuhiro Producer: 20171222 In: Autoimmunity vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2400.	ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). [electronic resource] by De Sousa, S M C Stowasser, M Feng, J Schreiber, A W Wang, P Hahn, C N Gordon, R D Torpy, D J Scott, H S Gagliardi, L Producer: 20190528 In: Journal of human hypertension vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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