Ngā hua rapu - Andrew Orr
- E whakaatu ana i te 1 - 9 hua o te 9
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1
Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error mā Seyyedhassan Paylakhi, Cassandre Labelle‐Dumais, Nicholas Tolman, Michael A. Sellarole, Yusef Seymens, Joseph Saunders, Hesham Lakosha, Wilhelmine N. deVries, Andrew Orr, Piotr Topilko, Simon W. M. John, K. Saidas Nair
I whakaputaina 2018Artigo -
2
Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 mā Duane L. Guernsey, Haiyan Jiang, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Mathew Nightingale, Andrea L. Rideout, Sylvie Provost, Karen Bedard, Andrew Orr, Marie‐Pierre Dubé, Mark D. Ludman, Mark E. Samuels
I whakaputaina 2009Artigo -
3
Attitudes of parents toward the return of targeted and incidental genomic research findings in children mā Conrad V. Fernandez, Éric Bouffet, David Malkin, Nada Jabado, Colleen O’Connell, Denise Avard, Bartha Maria Knoppers, Meghan Ferguson, Kym M. Boycott, Poul H. Sorensen, Andrew Orr, Johane M. Robitaille, Christopher R. McMaster
I whakaputaina 2014Artigo -
4
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease mā Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark D. Ludman, David Skidmore, Timothy Benstead, Mark E. Samuels
I whakaputaina 2010Artigo -
5
Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy mā Andrew Orr, Marie‐Pierre Dubé, Julien L. Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Q. Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane L. Guernsey, Mark E. Samuels
I whakaputaina 2007Artigo -
6
Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 mā Duane L. Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Scott Perry, Tina Babineau-Sturk, Jill Beis, Nadine Dumas, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Lysanne Patry, Andrea L. Rideout, Aidan Thomas, Andrew Orr, Ingrid Hoffmann, Jacques L. Michaud, Philip Awadalla, David Meek, Mark D. Ludman, Mark E. Samuels
I whakaputaina 2010Artigo -
7
Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer mā Daniel Gaston, Samantha Hansford, Carla Oliveíra, Mathew Nightingale, Hugo Pinheiro, Christine Macgillivray, Pardeep Kaurah, Andrea L. Rideout, Patricia A. Steele, Gabriela Soares, Weei‐Yuarn Huang, Scott Whitehouse, Sarah Blowers, Marissa A. LeBlanc, Haiyan Jiang, Wenda Greer, Mark E. Samuels, Andrew Orr, Conrad V. Fernandez, Jacek Majewski, Mark D. Ludman, Sarah Dyack, Lynette S. Penney, Christopher R. McMaster, David G. Huntsman, Karen Bedard
I whakaputaina 2014Artigo -
8
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci mā Tin Aung, Mineo Ozaki, Mei Lee, Ursula Schlötzer‐Schrehardt, Guðmar Þorleifsson, Takanori Mizoguchi, Robert P. Igo, Aravind Haripriya, Susan Williams, Yury S Astakhov, Andrew Orr, Kathryn P. Burdon, S Nakano, Kazuhiko Mori, Khaled K. Abu‐Amero, Michael A. Hauser, Zheng Li, Prakadeeswari Gopalakrishnan, Jessica N. Cooke Bailey, Alina Popa‐Cherecheanu, Jae H. Kang, Sarah C. Nelson, Ken Hayashi, Shin-ichi Manabe, Shigeyasu Kazama, Tomasz Żarnowski, Kenji Inoue, Murat İrkeç, Miguel Coca‐Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio G. Schlottmann, S. Lerner, Hasnaa Lamari, Nilgün Yıldırım, Mukharram M. Bikbov, Ki Ho Park, Soon Cheol, Kenji Yamashiro, Juan Carlos Zenteno, Jost B. Jonas, Rajesh S. Kumar, Shamira Perera, Anita Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P. Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach‐Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, S Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Y. Mardin, Panayiota Founti, A. Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Saravanan Vijayan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R. Kanavi, Afsaneh Naderi Beni, Shahin Yazdani
I whakaputaina 2017Revisão -
9
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome mā Tin Aung, Mineo Ozaki, Takanori Mizoguchi, R. Rand Allingham, Zheng Li, Aravind Haripriya, S Nakano, Steffen Uebe, Jeffrey M. Harder, Anita Chan, Mei Lee, Kathryn P. Burdon, Yury S. Astakhov, Khaled K. Abu‐Amero, Juan Carlos Zenteno, Nilgün Yıldırım, Tomasz Żarnowski, Mohammad Pakravan, Leen Abu Safieh, Liyun Jia, Ya Xing Wang, Susan Williams, Daniela Paoli, Patricio G. Schlottmann, Lulin Huang, Kar Seng Sim, Jia Nee Foo, Masakazu Nakano, Yoko Ikeda, Rajesh S. Kumar, Morio Ueno, Shin-ichi Manabe, Ken Hayashi, Shigeyasu Kazama, Ryuichi Ideta, Yosai Mori, Kazunori Miyata, Kazuhisa Sugiyama, Tomomi Higashide, Etsuo Chihara, Kenji Inoue, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Makoto Aihara, Tsutomu Ōhashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Fumihiko Matsuda, Kenji Yamashiro, Norimoto Gotoh, Masahiro Miyake, Sergei Astakhov, Essam A. Osman, Saleh A. Al‐Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Sami Al Shahwan, Rhys A Fogarty, Paul Leo, Yetkin Yaz, Oğuz Çilingir, Mozhgan Rezaei Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Evgeny L. Akopov, Kai Yee Toh, Gareth R. Howell, Andrew Orr, Yufen Goh, Wee Yang Meah, Su Qin Peh, Ewa Kosior‐Jarecka, Urszula Łukasik, Mandy Krumbiegel, Eranga N. Vithana, Tien Yin Wong, Yutao Liu, Allison E Ashley Koch, Pratap Challa, Robyn M. Rautenbach, David A. Mackey, Alex W. Hewitt, Paul Mitchell, Jie Jin Wang, Ari Ziskind, Trevor Carmichael, Ramakrishnan Rangappa, Kalpana Narendran, Rangaraj Venkatesh, Saravanan Vijayan, Peiquan Zhao, Xueyi Chen, Dalia Guadarrama-Vallejo, Ching‐Yu Cheng, Shamira Perera, Rahat Husain, Su-Ling Ho
I whakaputaina 2015Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Mutation
Cancer
Exon
Frameshift mutation
Medicine
Allele
Alternative splicing
Astronomy
Biochemistry
Bioinformatics
Biosynthesis
CDH1
Cadherin
Cancer research
Candidate gene
Cell
Cell biology
Childhood cancer
Compound heterozygosity
Computational biology
Computer science
Cutis laxa
DNA methylation
Developmental psychology
Disease
Exon skipping
Eye disease