Your search returned 4080 results.

Results
	3321.	Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. [electronic resource] by Xu, Shanshan Fan, Yanjie Sun, Yu Wang, Lili Gu, Xuefan Yu, Yongguo Producer: 20180713 In: BMC medical genomics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3322.	Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. [electronic resource] by Ashton, James J Andreoletti, Gaia Coelho, Tracy Haggarty, Rachel Batra, Akshay Afzal, Nadeem A Beattie, R Mark Ennis, Sarah Producer: 20180126 In: Inflammatory bowel diseases vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3323.	Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. [electronic resource] by Tavera-Tapia, A Pérez-Cabornero, L Macías, J A Ceballos, M I Roncador, G de la Hoya, M Barroso, A Felipe-Ponce, V Serrano-Blanch, R Hinojo, C Miramar-Gallart, M D Urioste, M Caldés, T Santillan-Garzón, S Benitez, J Osorio, A Producer: 20171207 In: Breast cancer research and treatment vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3324.	Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention. [electronic resource] by Kim, So Young Kim, Ah Reum Kim, Nayoung K D Lee, Chung Han, Jin Hee Kim, Min Young Jeon, Eun-Hee Park, Woong-Yang Mittal, Rahul Yan, Denise Liu, Xue Zhong Choi, Byung Yoon Producer: 20171228 In: The journal of gene medicine vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3325.	Metastatic triple-negative breast cancer patient with [electronic resource] by Meißner, Tobias Mark, Adam Williams, Casey Berdel, Wolfgang E Wiebe, Stephanie Kerkhoff, Andrea Wardelmann, Eva Gaiser, Timo Müller-Tidow, Carsten Rosenstiel, Philip Arnold, Norbert Leyland-Jones, Brian Franke, Andre Stanulla, Martin Forster, Michael Producer: 20171117 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3326.	Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia. [electronic resource] by Li, Qian Li, Botao Hu, Liangding Ning, Hongmei Jiang, Min Wang, Danhong Liu, Tingting Zhang, Bin Chen, Hu Producer: 20180309 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3327.	Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites. [electronic resource] by Nassar, Amin H Umeton, Renato Kim, Jaegil Lundgren, Kevin Harshman, Lauren Van Allen, Eliezer M Preston, Mark Dong, Fei Bellmunt, Joaquim Mouw, Kent W Choueiri, Toni K Sonpavde, Guru Kwiatkowski, David J Producer: 20200529 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)
	3328.	Pro-angiogenic Ginsenosides F1 and Rh1 Inhibit Vascular Leakage by Modulating NR4A1. [electronic resource] by Kang, Ji In Choi, Yoonjung Cui, Chang-Hau Lee, Daeyoup Kim, Sun Chang Kim, Ho Min Producer: 20201005 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3329.	Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast. [electronic resource] by Beca, Francisco Lee, Simon S K Pareja, Fresia Da Cruz Paula, Arnaud Selenica, Pier Ferrando, Lorenzo Gularte-Mérida, Rodrigo Wen, Hannah Y Zhang, Hong Guerini-Rocco, Elena Rakha, Emad A Weigelt, Britta Reis-Filho, Jorge S Producer: 20200427 In: Histopathology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3330.	Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies. [electronic resource] by Yasukochi, Yoshiki Sakuma, Jun Takeuchi, Ichiro Kato, Kimihiko Oguri, Mitsutoshi Fujimaki, Tetsuo Horibe, Hideki Yamada, Yoshiji Producer: 20200617 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)
	3331.	Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma. [electronic resource] by Xiao, Xiaoqiang Huang, Chukai Cao, Yingjie Chen, Shaowan Xu, Yanxuan Chen, Haoyu Pang, Chipui Zhang, Mingzhi Producer: 20200124 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3332.	Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma. [electronic resource] by Clark, David J Dhanasekaran, Saravana M Petralia, Francesca Pan, Jianbo Song, Xiaoyu Hu, Yingwei da Veiga Leprevost, Felipe Reva, Boris Lih, Tung-Shing M Chang, Hui-Yin Ma, Weiping Huang, Chen Ricketts, Christopher J Chen, Lijun Krek, Azra Li, Yize Rykunov, Dmitry Li, Qing Kay Chen, Lin S Ozbek, Umut Vasaikar, Suhas Wu, Yige Yoo, Seungyeul Chowdhury, Shrabanti Wyczalkowski, Matthew A Ji, Jiayi Schnaubelt, Michael Kong, Andy Sethuraman, Sunantha Avtonomov, Dmitry M Ao, Minghui Colaprico, Antonio Cao, Song Cho, Kyung-Cho Kalayci, Selim Ma, Shiyong Liu, Wenke Ruggles, Kelly Calinawan, Anna Gümüş, Zeynep H Geiszler, Daniel Kawaler, Emily Teo, Guo Ci Wen, Bo Zhang, Yuping Keegan, Sarah Li, Kai Chen, Feng Edwards, Nathan Pierorazio, Phillip M Chen, Xi Steven Pavlovich, Christian P Hakimi, A Ari Brominski, Gabriel Hsieh, James J Antczak, Andrzej Omelchenko, Tatiana Lubinski, Jan Wiznerowicz, Maciej Linehan, W Marston Kinsinger, Christopher R Thiagarajan, Mathangi Boja, Emily S Mesri, Mehdi Hiltke, Tara Robles, Ana I Rodriguez, Henry Qian, Jiang Fenyö, David Zhang, Bing Ding, Li Schadt, Eric Chinnaiyan, Arul M Zhang, Zhen Omenn, Gilbert S Cieslik, Marcin Chan, Daniel W Nesvizhskii, Alexey I Wang, Pei Zhang, Hui Producer: 20200527 In: Cell vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3333.	De novo variants in CNOT3 cause a variable neurodevelopmental disorder. [electronic resource] by Martin, R Splitt, M Genevieve, D Aten, E Collins, A de Bie, C I Faivre, L Foulds, N Giltay, J Ibitoye, R Joss, S Kennedy, J Kerr, B Kivuva, E Koopmans, M Newbury-Ecob, R Jean-Marçais, N Peeters, E A J Smithson, S Tomkins, S Tranmauthem, F Piton, A van Haeringen, A Producer: 20200720 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)
	3334.	Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. [electronic resource] by Sheikh, Shakeel A Sisk, Robert A Schiavon, Cara R Waryah, Yar M Usmani, Muhammad A Steel, David H Sayer, John A Narsani, Ashok K Hufnagel, Robert B Riazuddin, Saima Kahn, Richard A Waryah, Ali M Ahmed, Zubair M Producer: 20200131 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3335.	Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency. [electronic resource] by Pfeiffer, Brian Sen, Kuntal Kaur, Shagun Pappas, Kara Producer: 20210205 In: Neuropediatrics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3336.	Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families. [electronic resource] by Noman, Muhammad Ishaq, Rafaqat Bukhari, Shazia A Ahmed, Zubair M Riazuddin, Saima Producer: 20200601 In: Genes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3337.	Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes. [electronic resource] by Etemadikhah, Mitra Niazi, Adnan Wetterberg, Lennart Feuk, Lars 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)
	3338.	Expanding the phenotypic spectrum in RDH12-associated retinal disease. [electronic resource] by Scott, Hilary A Place, Emily M Ferenchak, Kevin Zampaglione, Erin Wagner, Naomi E Chao, Katherine R DiTroia, Stephanie P Navarro-Gomez, Daniel Mukai, Shizuo Huckfeldt, Rachel M Pierce, Eric A Bujakowska, Kinga M Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3339.	Histocompatibility Complex Status and Mendelian Randomization Analysis in Unsolved Antibody Deficiency. [electronic resource] by Abolhassani, Hassan Lim, Che Kang Aghamohammadi, Asghar Hammarström, Lennart Producer: 20210219 In: Frontiers in immunology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3340.	Single-Cell-Derived Primary Rectal Carcinoma Cell Lines Reflect Intratumor Heterogeneity Associated with Treatment Response. [electronic resource] by Braun, Rüdiger Anthuber, Lena Hirsch, Daniela Wangsa, Darawalee Lack, Justin McNeil, Nicole E Heselmeyer-Haddad, Kerstin Torres, Irianna Wangsa, Danny Brown, Markus A Tubbs, Anthony Auslander, Noam Gertz, E Michael Brauer, Philip R Cam, Margaret C Sackett, Dan L Habermann, Jens K Nussenzweig, Andre Ruppin, Eytan Zhang, Zhongqiu Rosenberg, Daniel W Ried, Thomas Producer: 20210914 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26 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.