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	3081.	High-throughput screening in colorectal cancer tissue-originated spheroids. [electronic resource] by Kondo, Jumpei Ekawa, Tomoya Endo, Hiroko Yamazaki, Kanami Tanaka, Norio Kukita, Yoji Okuyama, Hiroaki Okami, Jiro Imamura, Fumio Ohue, Masayuki Kato, Kikuya Nomura, Taisei Kohara, Arihiro Mori, Seiichi Dan, Shingo Inoue, Masahiro Producer: 20190114 In: Cancer science vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3082.	Genomic profiles of colorectal carcinoma with liver metastases and newly identified fusion genes. [electronic resource] by Oga, Takafumi Yamashita, Yoshihiro Soda, Manabu Kojima, Shinya Ueno, Toshihide Kawazu, Masahito Suzuki, Nobuaki Nagano, Hiroaki Hazama, Shoichi Izumiya, Masashi Koike, Kazuhiko Mano, Hiroyuki Producer: 20190930 In: Cancer science vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3083.	Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease. [electronic resource] by Park, Jong Eun Kim, Hee Jin Kim, Young-Eun Jang, Hyemin Cho, Soo Hyun Kim, Seung Joo Na, Duk L Won, Hong-Hee Ki, Chang-Seok Seo, Sang Won Producer: 20200911 In: Neurobiology of aging vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3084.	DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan. [electronic resource] by Al-Kzayer, Lika'a Fasih Y Al-Aradi, Hanadi Munaf H Shigemura, Tomonari Sano, Kenji Tanaka, Miyuki Hamada, Motoharu Ali, Kenan Hussien Aldaghir, Osamah Mohammed Nakazawa, Yozo Okuno, Yusuke Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3085.	Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies. [electronic resource] by Kamalapathy, P Fonda Allen, J S Macri, C J Lawrence, A K Regier, D S Rubio, E I Producer: 20200210 In: Journal of neonatal-perinatal medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3086.	Clinical, pathophysiologic, and genomic analysis of the outcomes of primary head and neck malignancy after pulmonary metastasectomy. [electronic resource] by Lu, Hsueh-Ju Hsieh, Chih-Cheng Yeh, Chi-Chun Yeh, Yi-Chen Wu, Chun-Chi Wang, Feng-Sheng Lai, Jin-Mei Yang, Muh-Hwa Wang, Cheng-Hsu Huang, Chi-Ying F Chang, Peter Mu-Hsin Producer: 20201027 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3087.	Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. [electronic resource] by Li, Huiping Yuan, Shiqin Minegishi, Yuriko Suga, Akiko Yoshitake, Kazutoshi Sheng, Xunlun Ye, Jianping Smith, Stuart Bunkoczi, Gabor Yamamoto, Megumi Iwata, Takeshi 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)
	3088.	Genetic variations in olfactory receptor gene OR2AG2 in a large multigenerational family with asthma. [electronic resource] by Chakraborty, Samarpana Dakle, Pushkar Sinha, Anirban Vishweswaraiah, Sangeetha Nagori, Aditya Salimath, Shivalingaswamy Prakash, Y S Lodha, R Kabra, S K Ghosh, Balaram Faruq, Mohammed Mahesh, P A Agrawal, Anurag Producer: 20201106 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3089.	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. [electronic resource] by Caporali, Leonardo Magri, Stefania Legati, Andrea Del Dotto, Valentina Tagliavini, Francesca Balistreri, Francesca Nasca, Alessia La Morgia, Chiara Carbonelli, Michele Valentino, Maria L Lamantea, Eleonora Baratta, Silvia Schöls, Ludger Schüle, Rebecca Barboni, Piero Cascavilla, Maria L Maresca, Alessandra Capristo, Mariantonietta Ardissone, Anna Pareyson, Davide Cammarata, Gabriella Melzi, Lisa Zeviani, Massimo Peverelli, Lorenzo Lamperti, Costanza Marzoli, Stefania B Fang, Mingyan Synofzik, Matthis Ghezzi, Daniele Carelli, Valerio Taroni, Franco Producer: 20201013 In: Annals of neurology vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3090.	An unusual hematopoietic stem cell transplantation for donor acute lymphoblastic leukemia: a case report. [electronic resource] by Zhou, Di Xie, Ting Chen, Suning Ling, Yipeng Xu, Yueyi Chen, Bing Ouyang, Jian Yang, Yonggong Producer: 20201124 In: BMC cancer vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3091.	A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. [electronic resource] by Fernandes-Rosa, Fabio L Daniil, Georgios Orozco, Ian J Göppner, Corinna El Zein, Rami Jain, Vandana Boulkroun, Sheerazed Jeunemaitre, Xavier Amar, Laurence Lefebvre, Hervé Schwarzmayr, Thomas Strom, Tim M Jentsch, Thomas J Zennaro, Maria-Christina Producer: 20190510 In: Nature genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3092.	Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. [electronic resource] by Wang, Ye Wu, Xueli Du, Liu Zheng, Ju Deng, Songqing Bi, Xin Chen, Qiuyan Xie, Hongning Férec, Claude Cooper, David N Luo, Yanmin Fang, Qun Chen, Jian-Min Producer: 20190131 In: Human genomics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3093.	De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. [electronic resource] by Zarrei, Mehdi Fehlings, Darcy L Mawjee, Karizma Switzer, Lauren Thiruvahindrapuram, Bhooma Walker, Susan Merico, Daniele Casallo, Guillermo Uddin, Mohammed MacDonald, Jeffrey R Gazzellone, Matthew J Higginbotham, Edward J Campbell, Craig deVeber, Gabrielle Frid, Pam Gorter, Jan Willem Hunt, Carolyn Kawamura, Anne Kim, Marie McCormick, Anna Mesterman, Ronit Samdup, Dawa Marshall, Christian R Stavropoulos, Dimitri J Wintle, Richard F Scherer, Stephen W Producer: 20180926 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3094.	Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation. [electronic resource] by Hsu, Amy P West, Robert R Calvo, Katherine R Cuellar-Rodriguez, Jennifer Parta, Mark Kelly, Susan J Ganson, Nancy J Hershfield, Michael S Holland, Steven M Hickstein, Dennis D Producer: 20180827 In: The Journal of allergy and clinical immunology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3095.	Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. [electronic resource] by Mohammed, Mohammed Al-Hashmi, Nadia Al-Rashdi, Samiya Al-Sukaiti, Nashat Al-Adawi, Kawther Al-Riyami, Marwa Al-Maawali, Almundher Producer: 20200206 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3096.	PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population. [electronic resource] by Wu, Zehua Meng, Delong Fang, Chengbo Li, Jian Zheng, Xiujie Lin, Jiansuo Zeng, Haijiang Lv, Sihan Zhang, Zhenning Luan, Bing Zhong, Zilin Chen, Jianjun Producer: 20190730 In: Molecular medicine reports vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3097.	Comprehensive analysis of age-related somatic mutation profiles in Chinese young lung adenocarcinoma patients. [electronic resource] by Yang, Bo Li, Jie Li, Fang Zhou, Hongxia Shi, Weiwei Shi, Huaiyin Sun, Shengjie Sun, Wending Wang, Jinliang Ma, Junxun Yan, Xiang Hu, Yi Jiao, Shunchang Producer: 20200507 In: Cancer medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3098.	Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma. [electronic resource] by Bah, Ismaël Fahiminiya, Somayyeh Bégin, Louis R Hamel, Nancy D'Agostino, Maria D Tanguay, Simon Foulkes, William D Producer: 20191023 In: The journal of pathology. Clinical research vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3099.	A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. [electronic resource] by Wang, Li Feng, Yong Yan, Denise Qin, Litao Grati, M'hamed Mittal, Rahul Li, Tao Sundhari, Abhiraami Kannan Liu, Yalan Chapagain, Prem Blanton, Susan H Liao, Shixiu Liu, Xuezhong Producer: 20190326 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3100.	TIRAP p.R81C is a novel lymphoma risk variant which enhances cell proliferation [electronic resource] by Burkhard, Regula Keller, Irene Arambasic, Miroslav Juskevicius, Darius Tzankov, Alexandar Lundberg, Pontus Bruggmann, Rémy Dirnhofer, Stephan Radpour, Ramin Novak, Urban Producer: 20200506 In: Haematologica vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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