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	41.	A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. [electronic resource] by Barbaro, Vanessa Nardiello, Paola Castaldo, Giuseppe Willoughby, Colin E Ferrari, Stefano Ponzin, Diego Amato, Felice Bonifazi, Ernesto Parekh, Mohit Calistri, Arianna Parolin, Cristina Di Iorio, Enzo Producer: 20121105 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. [electronic resource] by Richard, Gabriele Rouan, Fatima Willoughby, Colin E Brown, Nkecha Chung, Pil Ryynänen, Markku Jabs, Ethylin Wang Bale, Sherri J DiGiovanna, John J Uitto, Jouni Russell, Laura Producer: 20020523 In: American journal of human genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. [electronic resource] by Callea, Michele Cammarata-Scalisi, Francisco Willoughby, Colin E Giglio, Sabrina R Sani, Ilaria Bargiacchi, Sara Traficante, Giovanna Bellacchio, Emanuele Tadini, Gianluca Yavuz, Izzet Galeotti, Angela Clarich, Gabriella Producer: 20180308 In: Archivos argentinos de pediatria vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Deformation velocity imaging using optical coherence tomography and its applications to the cornea. [electronic resource] by Lawman, Samuel Madden, Peter W Romano, Vito Dong, Yue Mason, Sharon Williams, Bryan M Kaye, Stephen B Willoughby, Colin E Harding, Simon P Shen, Yao-Chun Zheng, Yalin Publication details: Biomedical optics express Dec 2017 In: Biomedical optics express vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile. [electronic resource] by MacCormick, Ian J C Williams, Bryan M Zheng, Yalin Li, Kun Al-Bander, Baidaa Czanner, Silvester Cheeseman, Rob Willoughby, Colin E Brown, Emery N Spaeth, George L Czanner, Gabriela Producer: 20190924 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Correction: Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile. [electronic resource] by MacCormick, Ian J C Williams, Bryan M Zheng, Yalin Li, Kun Al-Bander, Baidaa Czanner, Silvester Cheeseman, Rob Willoughby, Colin E Brown, Emery N Spaeth, George L Czanner, Gabriela Publication details: PloS one 2019 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants. [electronic resource] by Sundaresan, Periasamy Simpson, David A Sambare, Chitra Duffy, Seamus Lechner, Judith Dastane, Aditi Dervan, Edward W Vallabh, Neeru Chelerkar, Vidya Deshpande, Madan O'Brien, Colm McKnight, Amy Jayne Willoughby, Colin E Producer: 20151217 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. [electronic resource] by Zhao, Li Wang, Feng Wang, Hui Li, Yumei Alexander, Sharon Wang, Keqing Willoughby, Colin E Zaneveld, Jacques E Jiang, Lichun Soens, Zachry T Earle, Philip Simpson, David Silvestri, Giuliana Chen, Rui Producer: 20150417 In: Human genetics vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function. [electronic resource] by Barbaro, Vanessa Nasti, Annamaria A Del Vecchio, Claudia Ferrari, Stefano Migliorati, Angelo Raffa, Paolo Lariccia, Vincenzo Nespeca, Patrizia Biasolo, Mariangela Willoughby, Colin E Ponzin, Diego Palù, Giorgio Parolin, Cristina Di Iorio, Enzo Producer: 20171204 In: Stem cells (Dayton, Ohio) vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. [electronic resource] by Lechner, Judith Porter, Louise F Rice, Aine Vitart, Veronique Armstrong, David J Schorderet, Daniel F Munier, Francis L Wright, Alan F Inglehearn, Chris F Black, Graeme C Simpson, David A Manson, Forbes Willoughby, Colin E Producer: 20150603 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. [electronic resource] by Oliver, Verity F van Bysterveldt, Katherine A Cadzow, Murray Steger, Bernhard Romano, Vito Markie, David Hewitt, Alex W Mackey, David A Willoughby, Colin E Sherwin, Trevor Crosier, Philip S McGhee, Charles N Vincent, Andrea L Producer: 20160811 In: Ophthalmology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. [electronic resource] by Lechner, Judith Dash, Durga P Muszynska, Dorota Hosseini, Mohsen Segev, Fani George, Sonia Frazer, David G Moore, Jonathan E Kaye, Stephen B Young, Terri Simpson, David A Churchill, Amanda J Héon, Elise Willoughby, Colin E Producer: 20130703 In: Investigative ophthalmology & visual science vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Replication of the recessive STBMS1 locus but with dominant inheritance. [electronic resource] by Rice, Aine Nsengimana, Jérémie Simmons, Ian G Toomes, Carmel Hoole, Janice Willoughby, Colin E Cassidy, Frances Williams, Grange A George, Nick D Sheridan, Eamonn Young, Terri L Hunter, Tim I Barrett, Brendan T Elliott, David B Bishop, D Tim Inglehearn, Chris F Producer: 20090709 In: Investigative ophthalmology & visual science vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Mutational analysis of MIR184 in sporadic keratoconus and myopia. [electronic resource] by Lechner, Judith Bae, Ha Ae Guduric-Fuchs, Jasenka Rice, Aine Govindarajan, Gowthaman Siddiqui, Salina Abi Farraj, Layal Yip, Shea Ping Yap, Maurice Das, Manoranjan Souzeau, Emmanuelle Coster, Doug Mills, Richard A Lindsay, Richard Phillips, Tony Mitchell, Paul Ali, Manir Inglehearn, Chris F Sundaresan, Periasamy Craig, Jamie E Simpson, David A Burdon, Kathryn P Willoughby, Colin E Producer: 20130930 In: Investigative ophthalmology & visual science vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Association of Genetic Variation With Keratoconus. [electronic resource] by McComish, Bennet J Sahebjada, Srujana Bykhovskaya, Yelena Willoughby, Colin E Richardson, Andrea J Tenen, Abi Charlesworth, Jac C MacGregor, Stuart Mitchell, Paul Lucas, Sionne E M Mills, Richard A Mackey, David A Li, Xiaohui Wang, Jie Jin Jensen, Richard A Rotter, Jerome I Taylor, Kent D Hewitt, Alex W Rabinowitz, Yaron S Baird, Paul N Craig, Jamie E Burdon, Kathryn P Producer: 20201118 In: JAMA ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity. [electronic resource] by Qassim, Ayub Souzeau, Emmanuelle Siggs, Owen M Hassall, Mark M Han, Xikun Griffiths, Helen L Frost, N Andrew Vallabh, Neeru A Kirwan, James F Menon, Geeta Cree, Angela J Galanopoulos, Anna Agar, Ashish Healey, Paul R Graham, Stuart L Landers, John Casson, Robert J Gharahkhani, Puya Willoughby, Colin E Hewitt, Alex W Lotery, Andrew J MacGregor, Stuart Craig, Jamie E Producer: 20201207 In: Ophthalmology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. [electronic resource] by Guo, Dong-Chuan Pannu, Hariyadarshi Tran-Fadulu, Van Papke, Christina L Yu, Robert K Avidan, Nili Bourgeois, Scott Estrera, Anthony L Safi, Hazim J Sparks, Elizabeth Amor, David Ades, Lesley McConnell, Vivienne Willoughby, Colin E Abuelo, Dianne Willing, Marcia Lewis, Richard A Kim, Dong H Scherer, Steve Tung, Poyee P Ahn, Chul Buja, L Maximilian Raman, C S Shete, Sanjay S Milewicz, Dianna M Producer: 20071211 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	58.	Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. [electronic resource] by Ansari, Morad Rainger, Jacqueline Hanson, Isabel M Williamson, Kathleen A Sharkey, Freddie Harewood, Louise Sandilands, Angela Clayton-Smith, Jill Dollfus, Helene Bitoun, Pierre Meire, Francoise Fantes, Judy Franco, Brunella Lorenz, Birgit Taylor, David S Stewart, Fiona Willoughby, Colin E McEntagart, Meriel Khaw, Peng Tee Clericuzio, Carol Van Maldergem, Lionel Williams, Denise Newbury-Ecob, Ruth Traboulsi, Elias I Silva, Eduardo D Madlom, Mukhlis M Goudie, David R Fleck, Brian W Wieczorek, Dagmar Kohlhase, Juergen McTrusty, Alice D Gardiner, Carol Yale, Christopher Moore, Anthony T Russell-Eggitt, Isabelle Islam, Lily Lees, Melissa Beales, Philip L Tuft, Stephen J Solano, Juan B Splitt, Miranda Hertz, Jens Michael Prescott, Trine E Shears, Deborah J Nischal, Ken K Doco-Fenzy, Martine Prieur, Fabienne Temple, I Karen Lachlan, Katherine L Damante, Giuseppe Morrison, Danny A van Heyningen, Veronica FitzPatrick, David R Producer: 20170221 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. [electronic resource] by Iglesias, Adriana I Mishra, Aniket Vitart, Veronique Bykhovskaya, Yelena Höhn, René Springelkamp, Henriët Cuellar-Partida, Gabriel Gharahkhani, Puya Bailey, Jessica N Cooke Willoughby, Colin E Li, Xiaohui Yazar, Seyhan Nag, Abhishek Khawaja, Anthony P Polašek, Ozren Siscovick, David Mitchell, Paul Tham, Yih Chung Haines, Jonathan L Kearns, Lisa S Hayward, Caroline Shi, Yuan van Leeuwen, Elisabeth M Taylor, Kent D Bonnemaijer, Pieter Rotter, Jerome I Martin, Nicholas G Zeller, Tanja Mills, Richard A Souzeau, Emmanuelle Staffieri, Sandra E Jonas, Jost B Schmidtmann, Irene Boutin, Thibaud Kang, Jae H Lucas, Sionne E M Wong, Tien Yin Beutel, Manfred E Wilson, James F Uitterlinden, André G Vithana, Eranga N Foster, Paul J Hysi, Pirro G Hewitt, Alex W Khor, Chiea Chuen Pasquale, Louis R Montgomery, Grant W Klaver, Caroline C W Aung, Tin Pfeiffer, Norbert Mackey, David A Hammond, Christopher J Cheng, Ching-Yu Craig, Jamie E Rabinowitz, Yaron S Wiggs, Janey L Burdon, Kathryn P van Duijn, Cornelia M MacGregor, Stuart Publication details: Nature communications 01 2019 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	60.	Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. [electronic resource] by Iglesias, Adriana I Mishra, Aniket Vitart, Veronique Bykhovskaya, Yelena Höhn, René Springelkamp, Henriët Cuellar-Partida, Gabriel Gharahkhani, Puya Bailey, Jessica N Cooke Willoughby, Colin E Li, Xiaohui Yazar, Seyhan Nag, Abhishek Khawaja, Anthony P Polašek, Ozren Siscovick, David Mitchell, Paul Tham, Yih Chung Haines, Jonathan L Kearns, Lisa S Hayward, Caroline Shi, Yuan van Leeuwen, Elisabeth M Taylor, Kent D Bonnemaijer, Pieter Rotter, Jerome I Martin, Nicholas G Zeller, Tanja Mills, Richard A Souzeau, Emmanuelle Staffieri, Sandra E Jonas, Jost B Schmidtmann, Irene Boutin, Thibaud Kang, Jae H Lucas, Sionne E M Wong, Tien Yin Beutel, Manfred E Wilson, James F Uitterlinden, André G Vithana, Eranga N Foster, Paul J Hysi, Pirro G Hewitt, Alex W Khor, Chiea Chuen Pasquale, Louis R Montgomery, Grant W Klaver, Caroline C W Aung, Tin Pfeiffer, Norbert Mackey, David A Hammond, Christopher J Cheng, Ching-Yu Craig, Jamie E Rabinowitz, Yaron S Wiggs, Janey L Burdon, Kathryn P van Duijn, Cornelia M MacGregor, Stuart Producer: 20181127 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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