Your search returned 5852 results.

Results
	3961.	PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia. [electronic resource] by Khan, Arif O Aldahmesh, Mohammad A Producer: 20080925 In: Ophthalmic genetics vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3962.	FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. [electronic resource] by Ghezzi, Daniele Saada, Ann D'Adamo, Pio Fernandez-Vizarra, Erika Gasparini, Paolo Tiranti, Valeria Elpeleg, Orly Zeviani, Massimo Producer: 20081020 In: American journal of human genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3963.	Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency. [electronic resource] by Spiekerkoetter, Ute Mueller, Martina Cloppenburg, Eva Motz, Reinald Mayatepek, Ertan Bueltmann, Burkhard Korenke, Christoph Producer: 20080814 In: Molecular genetics and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3964.	HDR syndrome: a novel "de novo" mutation in GATA3 gene. [electronic resource] by Ferraris, Silvio Del Monaco, Angelo Giovanni Garelli, Emanuela Carando, Adriana De Vito, Barbara Pappi, Patrizia Lala, Roberto Ponzone, Alberto Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3965.	Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). [electronic resource] by Blansfield, Joseph A Choyke, Lynda Morita, Shane Y Choyke, Peter L Pingpank, James F Alexander, H Richard Seidel, Geoffrey Shutack, Yvonne Yuldasheva, Nargiza Eugeni, Michelle Bartlett, David L Glenn, Gladys M Middelton, Lindsay Linehan, W Marston Libutti, Steven K Producer: 20080104 In: Surgery vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3966.	Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. [electronic resource] by Desir, Julie Cassart, Marie David, Philippe Van Bogaert, Patrick Abramowicz, Marc Producer: 20080626 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3967.	Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. [electronic resource] by Garrido, Elena Cormand, Bru Hopwood, John J Chabás, Amparo Grinberg, Daniel Vilageliu, Lluïsa Producer: 20080915 In: Molecular genetics and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3968.	Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. [electronic resource] by Brunetti-Pierri, Nicola Olutoye, Oluyinka O Heptulla, Rubina Tatevian, Nina Producer: 20090129 In: Annals of clinical and laboratory science vol. 38 Availability: No items available. Save to lists Add to cart (remove)
	3969.	Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. [electronic resource] by Prando, Carolina Boisson-Dupuis, Stéphanie Grant, Audrey V Kong, Xiao-Fei Bustamante, Jacinta Feinberg, Jacqueline Chapgier, Ariane Rose, Yoann Jannière, Lucile Rizzardi, Elena Zhang, Qiuping Shanahan, Catherine M Viollet, Louis Lyonnet, Stanislas Abel, Laurent Ruga, Ezia Maria Casanova, Jean-Laurent Producer: 20100412 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3970.	Differences in carbapenem resistance genes among Acinetobacterbaumannii, Acinetobacter genospecies 3 and Acinetobacter genospecies 13TU in Taiwan. [electronic resource] by Lin, Yu-Chi Sheng, Wang-Huei Chen, Yee-Chun Chang, Shan-Chwen Hsia, Ko-Chiang Li, Shu-Ying Producer: 20100601 In: International journal of antimicrobial agents vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3971.	Structural insights into a novel histone demethylase PHF8. [electronic resource] by Yu, Lin Wang, Yang Huang, Shuo Wang, Jianjun Deng, Zengqin Zhang, Qi Wu, Wei Zhang, Xingliang Liu, Zhao Gong, Weimin Chen, Zhongzhou Producer: 20100429 In: Cell research vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3972.	Comparative analysis of syntenic genes in grass genomes reveals accelerated rates of gene structure and coding sequence evolution in polyploid wheat. [electronic resource] by Akhunov, Eduard D Sehgal, Sunish Liang, Hanquan Wang, Shichen Akhunova, Alina R Kaur, Gaganpreet Li, Wanlong Forrest, Kerrie L See, Deven Simková, Hana Ma, Yaqin Hayden, Matthew J Luo, Mingcheng Faris, Justin D Dolezel, Jaroslav Gill, Bikram S Producer: 20130618 In: Plant physiology vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3973.	Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. [electronic resource] by Xie, Shuqi Lan, Zhangzhang Qu, Ning Wei, Xiaoming Yu, Ping Zhu, Qian Yang, Guanghui Wang, Jinming Shi, Quan Wang, Wei Yang, Ling Yi, Xin Producer: 20120619 In: Gene vol. 499 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3974.	Genome features of "Dark-fly", a Drosophila line reared long-term in a dark environment. [electronic resource] by Izutsu, Minako Zhou, Jun Sugiyama, Yuzo Nishimura, Osamu Aizu, Tomoyuki Toyoda, Atsushi Fujiyama, Asao Agata, Kiyokazu Fuse, Naoyuki Producer: 20120713 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3975.	A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. [electronic resource] by Cullinane, Andrew R Curry, James A Carmona-Rivera, Carmelo Summers, C Gail Ciccone, Carla Cardillo, Nicholas D Dorward, Heidi Hess, Richard A White, James G Adams, David Huizing, Marjan Gahl, William A Producer: 20110817 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3976.	Identification of a novel risk variant in the FUS gene in essential tremor. [electronic resource] by Wu, Yih-Ru Foo, Jia Nee Tan, Louis C S Chen, Chiung-Mei Prakash, Kumar M Chen, Yi-Chun Bei, Jin-Xin Au, Wing-Lok Chang, Chia Wen Wong, Tien-Yin Liu, Jian-Jun Zhao, Yi Tan, Eng-King Producer: 20131017 In: Neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3977.	Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. [electronic resource] by Nabhani, Schafiq Ginzel, Sebastian Miskin, Hagit Revel-Vilk, Shoshana Harlev, Dan Fleckenstein, Bernhard Hönscheid, Andrea Oommen, Prasad T Kuhlen, Michaela Thiele, Ralf Laws, Hans-Jürgen Borkhardt, Arndt Stepensky, Polina Fischer, Ute Producer: 20160321 In: Haematologica vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3978.	Molecular and cellular analysis of a novel HBA2 mutation (HBA2: c.94A > G) shows activation of a cryptic splice site and generation of a premature termination codon. [electronic resource] by Qadah, Talal Finlayson, Jill Joly, Philippe Ghassemifar, Reza Producer: 20140911 In: Hemoglobin vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3979.	A common nonsense mutation of the BLM gene and prostate cancer risk and survival. [electronic resource] by Antczak, Andrzej Kluźniak, Wojciech Wokołorczyk, Dominika Kashyap, Aniruddh Jakubowska, Anna Gronwald, Jacek Huzarski, Tomasz Byrski, Tomasz Dębniak, Tadeusz Masojć, Bartłomiej Górski, Bohdan Gromowski, Tomasz Nagorna, Agnieszka Gołąb, Adam Sikorski, Andrzej Słojewski, Marcin Gliniewicz, Bartłomiej Borkowski, Tomasz Borkowski, Andrzej Przybyła, Jacek Sosnowski, Marek Małkiewicz, Bartosz Zdrojowy, Romuald Sikorska-Radek, Paulina Matych, Józef Wilkosz, Jacek Różański, Waldemar Kiś, Jacek Bar, Krzysztof Domagała, Paweł Stawicka, Małgorzata Milecki, Piotr Akbari, Mohammad R Narod, Steven A Lubiński, Jan Cybulski, Cezary Bryniarski, Piotr Paradysz, Andrzej Jersak, Konrad Niemirowicz, Jerzy Słupski, Piotr Jarzemski, Piotr Skrzypczyk, Michał Dobruch, Jakub Domagała, Wenancjusz Chosia, Maria van de Wetering, Thierry Serrano-Fernández, Pablo Puszyński, Michał Soczawa, Michał Switała, Jerzy Archimowicz, Sławomir Kordowski, Mirosław Zyczkowski, Marcin Borówka, Andrzej Bagińska, Joanna Krajka, Kazimierz Szwiec, Marek Haus, Olga Janiszewska, Hanna Stembalska, Agnieszka Sąsiadek, Maria Małgorzata Producer: 20131224 In: Gene vol. 532 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3980.	A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1. [electronic resource] by Cai, S P Fan, N Chen, J Xia, Z L Wang, Y Zhou, X M Yin, Y Wen, T L Xia, Q J Liu, X Y Wang, H Y Producer: 20150408 In: Genetics and molecular research : GMR vol. 13 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 5852 results.