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	3041.	Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. [electronic resource] by Wardell, Christopher P Fujita, Masashi Yamada, Toru Simbolo, Michele Fassan, Matteo Karlic, Rosa Polak, Paz Kim, Jaegil Hatanaka, Yutaka Maejima, Kazuhiro Lawlor, Rita T Nakanishi, Yoshitsugu Mitsuhashi, Tomoko Fujimoto, Akihiro Furuta, Mayuko Ruzzenente, Andrea Conci, Simone Oosawa, Ayako Sasaki-Oku, Aya Nakano, Kaoru Tanaka, Hiroko Yamamoto, Yujiro Michiaki, Kubo Kawakami, Yoshiiku Aikata, Hiroshi Ueno, Masaki Hayami, Shinya Gotoh, Kunihito Ariizumi, Shun-Ichi Yamamoto, Masakazu Yamaue, Hiroki Chayama, Kazuaki Miyano, Satoru Getz, Gad Scarpa, Aldo Hirano, Satoshi Nakamura, Toru Nakagawa, Hidewaki Producer: 20190916 In: Journal of hepatology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3042.	Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease. [electronic resource] by Fan, Liang-Liang Huang, Hao Jin, Jie-Yuan Li, Jing-Jing Chen, Ya-Qin Zhao, Shui-Ping Xiang, Rong Producer: 20180226 In: Gene vol. 648 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3043.	Genetic landscape of ultra-stable chronic lymphocytic leukemia patients. [electronic resource] by Raponi, S Del Giudice, I Marinelli, M Wang, J Cafforio, L Ilari, C Piciocchi, A Messina, M Bonina, S Tavolaro, S Bordyuh, M Mariglia, P Peragine, N Mauro, F R Chiaretti, S Molica, S Gentile, M Visentin, A Trentin, L Rigolin, G M Cuneo, A Diop, F Rossi, D Gaidano, G Guarini, A Rabadan, R Foà, R Producer: 20191125 In: Annals of oncology : official journal of the European Society for Medical Oncology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3044.	Tumor Mutational Burden and Genomic Alterations in Chinese Small Cell Lung Cancer Measured by Whole-Exome Sequencing. [electronic resource] by Su, Shan Zou, Jian-Jun Zeng, Yun-Yun Cen, Wen-Chang Zhou, Wei Liu, Yan Su, Duo-Hua Zhang, Xian-Lan Huang, Hui-Yi Lei, An Huang, Zhi-Hao Jin, Yun Li, Lei Su, Ning Xie, Ya-Lin Zhao, Zhen-Gang Liu, Jian-Xiong Producer: 20200409 In: BioMed research international vol. 2019 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3045.	Genomic coamplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients. [electronic resource] by Amoroso, Loredana Ognibene, Marzia Morini, Martina Conte, Massimo Di Cataldo, Andrea Tondo, Annalisa D'Angelo, Paolo Castellano, Aurora Garaventa, Alberto Lasorsa, Vito A Podestà, Marina Capasso, Mario Pezzolo, Annalisa Producer: 20201027 In: Genes, chromosomes & cancer vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3046.	Extensive splicing changes in an ALS/FTD transgenic mouse model overexpressing cytoplasmic fused in sarcoma. [electronic resource] by Ito, Daisuke Taguchi, Ryota Deguchi, Maki Ogasawara, Hideaki Inoue, Eiji Producer: 20201204 In: Scientific reports vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3047.	New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation. [electronic resource] by Kuemmerle-Deschner, Jasmin B Welzel, Tatjana Hoertnagel, Konstanze Tsiflikas, Ilias Hospach, Anton Liu, Xiao Schlipf, Susanne Hansmann, Sandra Samba, Samuel D Griesinger, Andreas Benseler, Susanne M Weber, Alexander N Producer: 20210122 In: Rheumatology (Oxford, England) vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3048.	A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy. [electronic resource] by Wang, Li Sun, Jingmin Xu, Xiaoyan Tao, Longxiang Wu, De Zhang, Ying Producer: 20210127 In: Indian journal of pathology & microbiology vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3049.	Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging. [electronic resource] by Guo, Sen Yang, Liu Liu, Huijie Chen, Wei Li, Jinchen Yu, Ping Sun, Zhong Sheng Chen, Xiang Du, Jie Cai, Tao Producer: 20180409 In: Molecular neurobiology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3050.	Full-length mutation search of the TP53 gene in acute myeloid leukemia has increased significance as a prognostic factor. [electronic resource] by Terada, Kazuki Yamaguchi, Hiroki Ueki, Toshimitsu Usuki, Kensuke Kobayashi, Yutaka Tajika, Kenji Gomi, Seiji Kurosawa, Saiko Miyadera, Keiki Tokura, Taichiro Omori, Ikuko Marumo, Atushi Fujiwara, Yusuke Yui, Shunsuke Ryotokuji, Takeshi Osaki, Yoshiki Arai, Kunihito Kitano, Tomoaki Kosaka, Fumiko Wakita, Satoshi Tamai, Hayato Fukuda, Takahiro Inokuchi, Koiti Producer: 20180130 In: Annals of hematology vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3051.	Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case. [electronic resource] by Yang, Yan-Dong Huang, Lv-Yin Yan, Jin-Mei Han, Jin Zhang, Yi Li, Dong-Zhi Producer: 20180924 In: European journal of obstetrics, gynecology, and reproductive biology vol. 215 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3052.	New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss. [electronic resource] by Xia, Wenjun Hu, Jiongjiong Liu, Fei Ma, Jing Sun, Shaoyang Zhang, Jin Jin, Kaiyue Huang, Jianbo Jiang, Nan Wang, Xu Li, Wen Ma, Zhaoxin Ma, Duan Producer: 20180510 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3053.	FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? [electronic resource] by Myers, Angela du Souich, Christèle Yang, Connie L Borovik, Lior Mwenifumbo, Jill Rupps, Rosemarie Study, Causes Lehman, Anna Boerkoel, Cornelius F Producer: 20180321 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)
	3054.	Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. [electronic resource] by Haskell, Gloria T Mori, Mari Powell, Cynthia Amrhein, Timothy J Rice, Gillian I Bailey, Lauren Strande, Natasha Weck, Karen E Evans, James P Berg, Jonathan S Kishnani, Priya 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)
	3055.	Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. [electronic resource] by Liu, Yi Kang, Lulu Li, Dongxiao Jin, Ying Song, Jinqing Li, Haixia Wang, Junjuan Yang, Yanling Producer: 20190314 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3056.	Germline-Derived Gain-of-Function Variants of Gs [electronic resource] by Miyado, Mami Fukami, Maki Takada, Shuji Terao, Miho Nakabayashi, Kazuhiko Hata, Kenichiro Matsubara, Yoichi Tanaka, Yoko Sasaki, Goro Nagasaki, Keisuke Shiina, Masaaki Ogata, Kazuhiro Masunaga, Youhei Saitsu, Hirotomo Ogata, Tsutomu Producer: 20200227 In: Journal of the American Society of Nephrology : JASN vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3057.	Whole transcriptome analysis of diabetic nephropathy in the db/db mouse model of type 2 diabetes. [electronic resource] by Wen, Li Zhang, Zheng Peng, Rui Zhang, Luyu Liu, Handeng Peng, Huimin Sun, Yan Producer: 20200914 In: Journal of cellular biochemistry vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3058.	Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population. [electronic resource] by Chang, Ya-Sian Lee, Chien-Chin Ke, Tao-Wei Chang, Chieh-Min Chao, Dy-San Huang, Hsi-Yuan Chang, Jan-Gowth Producer: 20200803 In: Cancer medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3059.	Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. [electronic resource] by Darras, Natasha Ha, Thoa K Rego, Shannon Martin, Pierre-Marie Barroso, Eva Slavotinek, Anne M Cilio, Maria R Producer: 20200804 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3060.	TP53 mutations in peripheral mature T and NK cell lymphomas: a whole-exome sequencing study with correlation to p53 expression. [electronic resource] by Huang, Hui-Shan Liao, Chun-Kai Liu, Ting-Ting You, Huey-Ling Wang, Ming-Chung Huang, Wan-Ting Producer: 20190516 In: Human pathology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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