Your search returned 4080 results.

Results
	3241.	Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. [electronic resource] by Alghamdi, Hamza A Tashkandi, Suha A Alidrissi, Eman M Aledielah, Rawan D AlSaidi, Khelad A Alharbi, Enas S Habazi, Murad K Alzahrani, Mofareh S Producer: 20190930 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)
	3242.	De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. [electronic resource] by Qi, Hongjian Yu, Lan Zhou, Xueya Wynn, Julia Zhao, Haoquan Guo, Yicheng Zhu, Na Kitaygorodsky, Alexander Hernan, Rebecca Aspelund, Gudrun Lim, Foong-Yen Crombleholme, Timothy Cusick, Robert Azarow, Kenneth Danko, Melissa E Chung, Dai Warner, Brad W Mychaliska, George B Potoka, Douglas Wagner, Amy J ElFiky, Mahmoud Wilson, Jay M Nickerson, Debbie Bamshad, Michael High, Frances A Longoni, Mauro Donahoe, Patricia K Chung, Wendy K Shen, Yufeng Producer: 20190304 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3243.	Bi-allelic mutations in [electronic resource] by Milev, Miroslav P Graziano, Claudio Karall, Daniela Kuper, Willemijn F E Al-Deri, Noraldin Cordelli, Duccio Maria Haack, Tobias B Danhauser, Katharina Iuso, Arcangela Palombo, Flavia Pippucci, Tommaso Prokisch, Holger Saint-Dic, Djenann Seri, Marco Stanga, Daniela Cenacchi, Giovanna van Gassen, Koen L I Zschocke, Johannes Fauth, Christine Mayr, Johannes A Sacher, Michael van Hasselt, Peter M Producer: 20191114 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)
	3244.	Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing. [electronic resource] by Tian, Tao Lu, Yajie Yao, Jun Cao, Xin Wei, Qinjun Li, Qi Producer: 20190226 In: Genes & genetic systems vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3245.	Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. [electronic resource] by Gartner, Valerie Markello, Thomas C Macnamara, Ellen De Biase, Andrea Thurm, Audrey Joseph, Lisa Beggs, Alan Schmahmann, Jeremy D Berry, Gerard T Anselm, Irina Boslet, Emma Tifft, Cynthia J Gahl, William A Lee, Paul R Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3246.	Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection. [electronic resource] by Zhang, Wenwen Han, Qian Liu, Zhao Zhou, Wei Cao, Qing Zhou, Weimin Producer: 20190522 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3247.	Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach. [electronic resource] by Gibbon, Andrea Saunders, Colleen J Collins, Malcolm Gamieldien, Junaid September, Alison V Producer: 20190404 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3248.	Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. [electronic resource] by Takeichi, Takuya Okuno, Yusuke Kawamoto, Akane Inoue, Takeshi Nagamoto, Eiko Murase, Chiaki Shimizu, Eri Tanaka, Kenichi Kageshita, Yuichi Fukushima, Satoshi Kono, Michihiro Ishikawa, Junko Ihn, Hironobu Takahashi, Yoshiyuki Akiyama, Masashi Producer: 20190902 In: Journal of lipid research vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3249.	Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1rd8 Allele. [electronic resource] by Chang, Bo FitzMaurice, Bernard Wang, Jieping Low, Benjamin E Wiles, Michael V Nishina, Patsy M Producer: 20190506 In: Investigative ophthalmology & visual science vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3250.	Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations. [electronic resource] by Poulos, Rebecca C Wong, Yuen T Ryan, Regina Pang, Herbert Wong, Jason W H Producer: 20190226 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3251.	Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions. [electronic resource] by Yu, Zhou Ma, Jing Li, Xia Liu, Yixiong Li, Mingyang Wang, Lu Zhao, Ming He, Huiying Zhang, Yifen Rao, Qiu Zhao, Danhui Wang, Yingmei Fan, Linni Li, Peifeng Liu, Yang Liu, Fang Zhang, Feng Ye, Jing Yan, Qingguo Guo, Shuangping Wang, Zhe 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)
	3252.	Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. [electronic resource] by Muthusamy, Babylakshmi Nguyen, Thong T Bandari, Aravind K Basheer, Salah Selvan, Lakshmi Dhevi N Chandel, Deepshikha Manoj, Jesna Gayen, Srimonta Seshagiri, Somasekar Chandra Girimaji, Satish Pandey, Akhilesh Producer: 20200930 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)
	3253.	Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. [electronic resource] by Suleiman, Jehan Riedhammer, Korbinian M Jicinsky, Timothy Mundt, Melinda Werner, Laurie Gusic, Mirjana Burgemeister, Anna L Alsaif, Hessa S Abdulrahim, Maha Moghrabi, Nabil N Nicolas-Jilwan, Manal AlSayed, Moeenaldeen Bi, Weimin Sampath, Srirangan Alkuraya, Fowzan S El-Hattab, Ayman W Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3254.	Somatic mutation of DNAH genes implicated higher chemotherapy response rate in gastric adenocarcinoma patients. [electronic resource] by Zhu, Chunchao Yang, Qin Xu, Jia Zhao, Wenyi Zhang, Zizhen Xu, Danhua Zhang, Yeqian Zhao, Enhao Zhao, Gang Producer: 20200504 In: Journal of translational medicine vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3255.	De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. [electronic resource] by Horn, Susanne Au, Margaret Basel-Salmon, Lina Bayrak-Toydemir, Pinar Chapin, Alexander Cohen, Lior Elting, Mariet W Graham, John M Gonzaga-Jauregui, Claudia Konen, Osnat Holzer, Max Lemke, Johannes Miller, Christine E Rey, Linda K Wolf, Nicole I Weiss, Marjan M Waisfisz, Quinten Mirzaa, Ghayda M Wieczorek, Dagmar Sticht, Heinrich Abou Jamra, Rami Producer: 20200526 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3256.	Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma. [electronic resource] by Yu, Guoqin Hsu, Wan-Lun Coghill, Anna E Yu, Kelly J Wang, Cheng-Ping Lou, Pei-Jen Liu, Zhiwei Jones, Kristie Vogt, Aurelie Wang, Mingyi Mbulaiteye, Sam M Chen, Hao-Hui Boland, Joseph Yeager, Meredith Diehl, Scott R Chen, Chien-Jen Hildesheim, Allan Goldstein, Alisa M Producer: 20201103 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3257.	ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease. [electronic resource] by He, Jin Guo, Lingling Lin, Shan Chen, Wenfeng Xu, Guorong Cai, Bin Xu, Liuqing Hong, Jingmei Qiu, Liangliang Wang, Ning Chen, Wanjin Producer: 20200504 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3258.	Identification of genetic alterations in extramammary Paget disease using whole exome analysis. [electronic resource] by Kiniwa, Yukiko Yasuda, Jun Saito, Sakae Saito, Rumiko Motoike, Ikuko N Danjoh, Inaho Kinoshita, Kengo Fuse, Nobuo Yamamoto, Masayuki Okuyama, Ryuhei Producer: 20191213 In: Journal of dermatological science vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3259.	Whole exome sequencing reveals mutations in FAT1 tumor suppressor gene clinically impacting on peripheral T-cell lymphoma not otherwise specified. [electronic resource] by Laginestra, Maria Antonella Cascione, Luciano Motta, Giovanna Fuligni, Fabio Agostinelli, Claudio Rossi, Maura Sapienza, Maria Rosaria Righi, Simona Broccoli, Alessandro Indio, Valentina Melle, Federica Tabanelli, Valentina Calleri, Angelica Novero, Domenico Facchetti, Fabio Inghirami, Giorgio Sabattini, Elena Bertoni, Francesco Pileri, Stefano A Producer: 20210125 In: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3260.	circMAN1A2 could serve as a novel serum biomarker for malignant tumors. [electronic resource] by Fan, Chun-Mei Wang, Jin-Peng Tang, Yan-Yan Zhao, Jin He, Shu-Yi Xiong, Fang Guo, Can Xiang, Bo Zhou, Ming Li, Xiao-Ling Li, Yong Li, Gui-Yuan Xiong, Wei Zeng, Zhao-Yang Producer: 20190715 In: Cancer science vol. 110 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.